ClinVar Miner

Submissions for variant NM_005585.5(SMAD6):c.1412G>A (p.Gly471Asp) (rs1595805424)

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Total submissions: 2
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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 RCV000851364 SCV000993668 uncertain significance Radioulnar synostosis 2019-05-14 no assertion criteria provided case-control PVS1, PM2, PP4, BS4
OMIM RCV000851364 SCV001318178 risk factor Radioulnar synostosis 2020-05-27 no assertion criteria provided literature only

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