ClinVar Miner

Submissions for variant NM_001203.3(BMPR1B):c.247-4A>G

gnomAD frequency: 0.00001  dbSNP: rs570808649
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000363444 SCV000336299 benign not specified 2015-10-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000951972 SCV001098433 benign Type A2 brachydactyly; Acromesomelic dysplasia 3 2023-10-17 criteria provided, single submitter clinical testing
GeneDx RCV001668622 SCV001882779 benign not provided 2021-06-11 criteria provided, single submitter clinical testing

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