ClinVar Miner

Submissions for variant NM_001369.3(DNAH5):c.1476G>A (p.Thr492=)

gnomAD frequency: 0.00124  dbSNP: rs150994380
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000476195 SCV000558033 benign Primary ciliary dyskinesia 2024-01-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV000476195 SCV002697057 likely benign Primary ciliary dyskinesia 2015-08-26 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.
Breakthrough Genomics, Breakthrough Genomics RCV004717633 SCV005306089 benign not provided criteria provided, single submitter not provided

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