ClinVar Miner

Submissions for variant NM_001202.6(BMP4):c.592C>T (p.Arg198Ter)

dbSNP: rs387906597
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001267506 SCV001445687 pathogenic Inborn genetic diseases 2018-10-01 criteria provided, single submitter clinical testing
OMIM RCV000022455 SCV000043744 pathogenic Orofacial cleft 11 2011-10-01 no assertion criteria provided literature only
OMIM RCV000022456 SCV000043745 pathogenic Microphthalmia with brain and digit anomalies 2011-10-01 no assertion criteria provided literature only

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