ClinVar Miner

Submissions for variant NM_005585.5(SMAD6):c.405C>T (p.Ala135=)

gnomAD frequency: 0.00009  dbSNP: rs538097406
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001521825 SCV001731236 benign Aortic valve disease 2 2023-10-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002319976 SCV002632443 likely benign Inborn genetic diseases 2019-09-09 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.

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