ClinVar Miner

Submissions for variant NM_004329.3(BMPR1A):c.230+17G>A

dbSNP: rs1843128991
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001189559 SCV001356869 likely benign Hereditary cancer-predisposing syndrome 2019-06-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002560055 SCV003520808 likely benign Juvenile polyposis syndrome 2024-12-16 criteria provided, single submitter clinical testing

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