Submissions for variant NM_004329.3(BMPR1A):c.1230C>G (p.Pro410=)

dbSNP: rs200642188

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000635523	SCV000756937	likely benign	Juvenile polyposis syndrome	2024-09-21	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000773231	SCV000906843	likely benign	Hereditary cancer-predisposing syndrome	2018-07-17	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000773231	SCV001170652	likely benign	Hereditary cancer-predisposing syndrome	2019-11-20	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.
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV003478356	SCV004222518	likely benign	not provided	2023-09-15	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV000635523	SCV004835990	likely benign	Juvenile polyposis syndrome	2023-08-15	criteria provided, single submitter	clinical testing
Myriad Genetics, Inc.	RCV000635523	SCV005406375	benign	Juvenile polyposis syndrome	2024-08-07	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.