ClinVar Miner

Submissions for variant NM_001202.6(BMP4):c.348C>T (p.Thr116=)

gnomAD frequency: 0.00001  dbSNP: rs909451835
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002073285 SCV002326548 likely benign Microphthalmia with brain and digit anomalies; Orofacial cleft 11 2020-12-04 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001700537 SCV001922448 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001727947 SCV001974737 likely benign not provided no assertion criteria provided clinical testing

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