ClinVar Miner

Submissions for variant NM_005585.5(SMAD6):c.943G>T (p.Glu315Ter)

dbSNP: rs1595766210
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
The Laboratory of Genetics and Metabolism, Hunan Children’s Hospital RCV000851356 SCV000993660 pathogenic Radioulnar synostosis 2019-05-14 no assertion criteria provided case-control PVS1, PM2, PP3, PP4

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