ClinVar Miner

Submissions for variant NM_004329.3(BMPR1A):c.795C>T (p.Thr265=)

dbSNP: rs1843586772
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001181678 SCV001346872 likely benign Hereditary cancer-predisposing syndrome 2019-03-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001497681 SCV001702417 likely benign Juvenile polyposis syndrome 2022-08-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV001181678 SCV002676458 likely benign Hereditary cancer-predisposing syndrome 2022-10-12 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
All of Us Research Program, National Institutes of Health RCV001497681 SCV004835945 likely benign Juvenile polyposis syndrome 2023-07-09 criteria provided, single submitter clinical testing

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