ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.10877C>A (p.Pro3626Gln)

gnomAD frequency: 0.00002  dbSNP: rs543364800
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000527446 SCV000624079 benign Primary ciliary dyskinesia 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV002225647 SCV002504299 likely benign not provided 2021-02-17 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Ambry Genetics RCV000527446 SCV002727414 benign Primary ciliary dyskinesia 2017-09-28 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
CeGaT Center for Human Genetics Tuebingen RCV002225647 SCV004163816 benign not provided 2023-01-01 criteria provided, single submitter clinical testing DNAH11: BP4, BS1, BS2

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