Submissions for variant NM_004329.3(BMPR1A):c.1311T>C (p.Ile437=)

dbSNP: rs541331090

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV001010912	SCV001171173	likely benign	Hereditary cancer-predisposing syndrome	2019-11-11	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	RCV001010912	SCV004360089	likely benign	Hereditary cancer-predisposing syndrome	2023-10-02	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV003762957	SCV004511201	likely benign	Juvenile polyposis syndrome	2022-12-09	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV003762957	SCV004843823	likely benign	Juvenile polyposis syndrome	2023-11-20	criteria provided, single submitter	clinical testing
Myriad Genetics, Inc.	RCV003762957	SCV005402846	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.