ClinVar Miner

Submissions for variant NM_005585.5(SMAD6):c.1304_1313dup (p.Phe439fs)

dbSNP: rs1595805211
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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 RCV000851363 SCV000993667 uncertain significance Radioulnar synostosis 2019-05-14 no assertion criteria provided case-control PM1, PM2, PP3, PP4, BS4
OMIM RCV002508147 SCV001318180 risk factor Radioulnar synostosis, nonsyndromic, susceptibility to 2020-05-27 no assertion criteria provided literature only

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