ClinVar Miner

Submissions for variant NM_001202.6(BMP4):c.370+28G>A

gnomAD frequency: 0.00883  dbSNP: rs72680532
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000514808 SCV000610300 likely benign not provided 2017-04-20 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000727687 SCV000855023 benign not specified 2018-03-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001515453 SCV001723534 benign Microphthalmia with brain and digit anomalies; Orofacial cleft 11 2020-09-18 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000514808 SCV004134138 benign not provided 2024-08-01 criteria provided, single submitter clinical testing BMP4: BS1, BS2
Breakthrough Genomics, Breakthrough Genomics RCV000514808 SCV005212061 likely benign not provided criteria provided, single submitter not provided

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