ClinVar Miner

Submissions for variant NM_001202.6(BMP4):c.93G>C (p.Gly31=)

gnomAD frequency: 0.00003  dbSNP: rs375563326
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000894772 SCV001038779 likely benign Microphthalmia with brain and digit anomalies; Orofacial cleft 11 2023-06-08 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000894772 SCV002808303 likely benign Microphthalmia with brain and digit anomalies; Orofacial cleft 11 2022-02-16 criteria provided, single submitter clinical testing

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