ClinVar Miner

Submissions for variant NM_001719.3(BMP7):c.523C>T (p.Arg175Trp)

gnomAD frequency: 0.00001  dbSNP: rs1476787716
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Cytogenetics- Mohapatra Lab, Banaras Hindu University RCV002279853 SCV002567820 pathogenic Congenital heart defects, multiple types, 4 no assertion criteria provided case-control

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