ClinVar Miner

Submissions for variant NM_001369.3(DNAH5):c.9677C>T (p.Ala3226Val)

dbSNP: rs192262838
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000232582 SCV000287101 likely benign Primary ciliary dyskinesia 2025-01-23 criteria provided, single submitter clinical testing
Counsyl RCV000667515 SCV000791983 uncertain significance Primary ciliary dyskinesia 3 2017-06-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV000232582 SCV004050841 likely benign Primary ciliary dyskinesia 2023-07-14 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
Natera, Inc. RCV000232582 SCV001452459 uncertain significance Primary ciliary dyskinesia 2020-01-10 no assertion criteria provided clinical testing

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