Verify the diagnosis before you count it, with evidence fitted to what the data will be used for and read by a qualified person. This page goes with Chapter 8. Define your tiers first, decide who adjudicates and when, then classify every participant and report the counts together.
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Entry |
| Registry |
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| Condition |
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| Completed by (role) |
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| Date |
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| Version |
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Registry identifiers only
Use registry identifiers on this page. Do not enter names, dates of birth, contact details, or anything else that could identify a person.
Our tiers
The evidence below is an example. Replace it with the diagnostic standard for your condition.
| Tier or category |
Evidence required |
Who reviews it |
Used for (which analyses or users) |
| Tier 3 |
A genetic report showing a pathogenic or likely pathogenic variant in the gene, or the condition's diagnostic standard, reviewed by a qualified person |
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| Report on file, awaiting review |
A qualifying report has been uploaded and no qualified person has reviewed it yet |
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| Tier 2 |
A genetic report showing a variant of uncertain significance |
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| Tier 1 |
A clinician letter or note only |
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| Tier 0 |
Self-report only, or a result still pending |
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| Conflicting evidence |
Evidence pointing to a different cause |
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| Not a case |
Evidence that the person does not have the condition |
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| Duplicate |
A second enrollment of a person already in the registry |
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Adjudication
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Our decision |
| Adjudicate now or later, and why |
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| Who adjudicates, and their qualifications |
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| Standard applied |
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| Consent and IRB approval to share reports with a future reviewer |
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Classification log
| Participant (registry identifier) |
Evidence on file |
Tier or category |
Reviewed by (role) |
Date |
Query or note |
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Counts to report together
| Count |
Number |
As of (export date) |
| Records in the export |
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| Participants, after removing duplicates |
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| Confirmed at the tier our purpose requires |
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| Tier 3 |
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| Report on file, awaiting review |
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| Tier 2 |
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| Tier 1 |
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| Tier 0 |
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| Conflicting evidence |
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| Not a case |
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Evidence behind every other field
The diagnosis is one field among many. For each measure the registry collects, record where the value comes from, how it is collected, and whether that method is the one the measure was validated for, so that each use can be matched to the evidence before anything is published, shared, or offered as an endpoint.
| Field or measure |
Source (who supplies the value) |
Method of collection |
Validated for this method? (yes, no, unknown) |
Uses it supports |
Uses it does not support |
| Example: functional rating scale |
Caregiver |
Self-administered online, monthly |
No; validated for clinician administration |
Describing reported function over time; planning visit schedules |
Reporting scores on the instrument's scale; comparison with clinician-administered values; trial endpoint |
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