ClinVar Miner

Submissions for variant NM_001202.6(BMP4):c.1032A>G (p.Pro344=)

gnomAD frequency: 0.00002  dbSNP: rs1191198347
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002214572 SCV002366581 likely benign Microphthalmia with brain and digit anomalies; Orofacial cleft 11 2022-08-23 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003958578 SCV004769562 likely benign BMP4-related disorder 2021-06-28 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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