ClinVar Miner

Submissions for variant NM_001203.3(BMPR1B):c.157T>C (p.Cys53Arg) (rs863225041)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000201167 SCV000255922 pathogenic Acromesomelic dysplasia, Demirhan type 2014-06-01 no assertion criteria provided literature only

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