ClinVar Miner

Submissions for variant NM_005585.5(SMAD6):c.120C>T (p.Gly40=)

dbSNP: rs149612008
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000231139 SCV000288921 benign Aortic valve disease 2 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV001651091 SCV001864652 benign not provided 2018-09-04 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001727649 SCV003928231 benign not specified 2023-04-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001651091 SCV005293016 benign not provided criteria provided, single submitter not provided
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001651091 SCV001955487 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001727649 SCV001971204 benign not specified no assertion criteria provided clinical testing

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