ClinVar Miner

Submissions for variant NM_001202.6(BMP4):c.184C>G (p.Leu62Val)

dbSNP: rs2140238102
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001706899 SCV001934467 uncertain significance Orofacial cleft 11 2020-09-08 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV003992540 SCV004812166 uncertain significance Microphthalmia with brain and digit anomalies 2020-09-08 criteria provided, single submitter clinical testing

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