ClinVar Miner

Submissions for variant NM_005585.5(SMAD6):c.89_100dup (p.Gly30_Gly33dup)

dbSNP: rs1473812330
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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 RCV001799794 SCV001739417 uncertain significance Radioulnar synostosis; Heart, malformation of; Bicuspid aortic valve 2020-06-20 no assertion criteria provided research

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