ClinVar Miner

Submissions for variant NM_005585.5(SMAD6):c.1395_1404del (p.Ile466fs)

dbSNP: rs2140682369
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001706799 SCV001934304 uncertain significance Aortic valve disease 2 2020-11-09 criteria provided, single submitter clinical testing Despite strong evidence for its pathogenicity, this variant has to be classified as of unknown significance, according to the ACMG-criteria (Richards et al., 2015)

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