ClinVar Miner

Submissions for variant NM_005585.5(SMAD6):c.89G>C (p.Gly30Ala)

dbSNP: rs1567091237
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001317752 SCV001508424 uncertain significance Aortic valve disease 2 2021-09-01 criteria provided, single submitter clinical testing

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