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

dbSNP: rs780244868

Total submissions: 6

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: 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.
Color Diagnostics, LLC DBA Color Health	RCV001012093	SCV001339977	likely benign	Hereditary cancer-predisposing syndrome	2019-01-22	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001431834	SCV001634595	likely benign	Juvenile polyposis syndrome	2024-10-11	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
All of Us Research Program, National Institutes of Health	RCV001431834	SCV004838519	likely benign	Juvenile polyposis syndrome	2023-11-30	criteria provided, single submitter	clinical testing
Myriad Genetics, Inc.	RCV001431834	SCV005406296	benign	Juvenile polyposis syndrome	2024-08-08	criteria provided, single submitter	clinical testing	This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing.