ClinVar Miner

Submissions for variant NM_001202.6(BMP4):c.4A>T (p.Ile2Phe)

gnomAD frequency: 0.00002  dbSNP: rs760019960
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005004461 SCV005629361 uncertain significance Microphthalmia with brain and digit anomalies; Orofacial cleft 11 2024-04-28 criteria provided, single submitter clinical testing
Department of Medical Genetics, Nizam's Institute of Medical Sciences RCV000856839 SCV000998998 uncertain significance Aplasia/hypoplasia involving bones of the lower limbs; Absence of the sacrum no assertion criteria provided clinical testing

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