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Standard

Primary ciliary dyskinesia 7

DNAH11 · rs375965591

Strength of the evidence

There is no record yet to score this position by (a ClinVar disease classification or a genome-wide significant study). That is not the same as weak evidence.

How this is scored

4: ClinVar disease-causing, reviewed by an expert panel or a guideline (3–4 stars). 3: ClinVar, several labs agreeing (2 stars), or a genetic study at p ≤ 10−50. 2: ClinVar from one lab (1 star), or p ≤ 10−20. 1: ClinVar submitted without criteria (0 stars), or genome-wide significance (p ≤ 5×10−8). The higher of the two counts. It says how solid the evidence is, not whether it matters for a particular person.

What ClinVar records

Classification Conflicting classifications of pathogenicity for Primary ciliary dyskinesia 7, Primary ciliary dyskinesia; criteria provided, conflicting classifications (1 of 4 stars, 3 submitters), last evaluated 2025-06-23. ClinVar record 910521 NM_001277115.2(DNAH11):c.10701G>T (p.Arg3567Ser)

Change history MyGeneLog™ keeps a copy of every weekly release from 2026-10-19 and compares them. This position's classification has not changed since.

What this is ClinVar's aggregate record for this position (as of its 2026-10-19 release), not a result about you. A classification describes the variant against the condition named, as laboratories submitted it. Whether a person carries this variant, and what that would mean for them, is a question for a clinical test and a genetic counsellor.

What each result means

G/G No copy of the version labs disagree about for Primary ciliary dyskinesia 7: in ClinVar, some labs call it disease-causing and others do not. This is the usual result. (ClinVar VCV000910521, criteria provided, conflicting classifications)
G/T One copy of the version labs disagree about for Primary ciliary dyskinesia 7: in ClinVar, some labs call it disease-causing and others do not, so what one copy means is not settled. A genetic counsellor can look at the separate records. (ClinVar VCV000910521, criteria provided, conflicting classifications)
T/T Two copies of the version labs disagree about for Primary ciliary dyskinesia 7: in ClinVar, some labs call it disease-causing and others do not. A result like this should be confirmed by a medical genetic test and talked through with a doctor; consumer DNA files can misread rare variants. (ClinVar VCV000910521, criteria provided, conflicting classifications)

Source: ClinVar VCV000910521, criteria provided, conflicting classifications

Quoting this page

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Primary ciliary dyskinesia 7 (rs375965591). MyGeneLog™. https://www.mygenelog.com/variants/rs375965591

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