ClinVar Miner

Submissions for variant NM_005585.5(SMAD6):c.909G>A (p.Thr303=)

gnomAD frequency: 0.00108  dbSNP: rs139719094
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000232059 SCV000288927 benign Aortic valve disease 2 2024-01-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV002374365 SCV002685927 likely benign Inborn genetic diseases 2022-03-23 criteria provided, single submitter clinical testing This alteration is classified as likely 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003330598 SCV004038967 benign not specified 2023-08-10 criteria provided, single submitter clinical testing

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