ClinVar Miner

Submissions for variant NM_004329.3(BMPR1A):c.675+18A>G

gnomAD frequency: 0.00002  dbSNP: rs533369424
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000615585 SCV000730903 likely benign not specified 2017-05-22 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Color Diagnostics, LLC DBA Color Health RCV000777242 SCV000912937 likely benign Hereditary cancer-predisposing syndrome 2018-01-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002060622 SCV002458895 likely benign Juvenile polyposis syndrome 2025-01-22 criteria provided, single submitter clinical testing

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