ClinVar Miner

Submissions for variant NM_001203.3(BMPR1B):c.599T>A (p.Ile200Lys)

dbSNP: rs121434417
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV004719631 SCV005325167 likely pathogenic not provided 2023-05-31 criteria provided, single submitter clinical testing Published functional studies suggest a damaging effect (Lehman et al., 2003); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 24129431, 14523231)
OMIM RCV000006933 SCV000027129 pathogenic Type A2 brachydactyly 2003-10-14 no assertion criteria provided literature only

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