ClinVar Miner

Submissions for variant NM_004329.3(BMPR1A):c.1539A>T (p.Thr513=)

dbSNP: rs780244868
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001012093 SCV001172505 likely benign Hereditary cancer-predisposing syndrome 2015-11-05 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
Color Diagnostics, LLC DBA Color Health RCV001012093 SCV001339977 likely benign Hereditary cancer-predisposing syndrome 2019-01-22 criteria provided, single submitter clinical testing
Invitae RCV001431834 SCV001634595 likely benign Juvenile polyposis syndrome 2022-09-08 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003478594 SCV004222523 likely benign not provided 2023-05-19 criteria provided, single submitter clinical testing

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