Submissions for variant NM_004329.3(BMPR1A):c.705G>A (p.Gln235=)

dbSNP: rs780907902

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Color Diagnostics, LLC DBA Color Health	RCV001185732	SCV001351998	likely benign	Hereditary cancer-predisposing syndrome	2018-11-26	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001460719	SCV001664598	likely benign	Juvenile polyposis syndrome	2024-07-06	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001185732	SCV002662984	likely benign	Hereditary cancer-predisposing syndrome	2020-12-18	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	RCV001460719	SCV004842881	likely benign	Juvenile polyposis syndrome	2023-12-01	criteria provided, single submitter	clinical testing
Myriad Genetics, Inc.	RCV001460719	SCV005407077	benign	Juvenile polyposis syndrome	2024-08-05	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.