ClinVar Miner

Submissions for variant NM_004329.3(BMPR1A):c.1473+9A>G

gnomAD frequency: 0.00002  dbSNP: rs920145716
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000457005 SCV000562762 likely benign Juvenile polyposis syndrome 2025-01-23 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000581963 SCV000688246 likely benign Hereditary cancer-predisposing syndrome 2017-10-06 criteria provided, single submitter clinical testing
GeneDx RCV000613460 SCV000724526 likely benign not specified 2017-11-06 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.
Sema4, Sema4 RCV000581963 SCV002528574 likely benign Hereditary cancer-predisposing syndrome 2021-03-02 criteria provided, single submitter curation
Myriad Genetics, Inc. RCV000457005 SCV005405073 likely benign Juvenile polyposis syndrome 2024-08-08 criteria provided, single submitter clinical testing This variant is considered likely benign. This variant is intronic and is not expected to impact mRNA splicing.

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