Submissions for variant NM_004329.3(BMPR1A):c.765C>T (p.Gly255=)

gnomAD frequency: 0.00002  dbSNP: rs786201114

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000162690	SCV000213144	likely benign	Hereditary cancer-predisposing syndrome	2016-02-05	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001086365	SCV000562741	likely benign	Juvenile polyposis syndrome	2025-01-13	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000162690	SCV000682917	likely benign	Hereditary cancer-predisposing syndrome	2016-03-21	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000758779	SCV000887611	likely benign	not provided	2018-08-01	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV002222412	SCV002500826	likely benign	not specified	2022-03-03	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV001086365	SCV004842895	likely benign	Juvenile polyposis syndrome	2024-09-27	criteria provided, single submitter	clinical testing
Myriad Genetics, Inc.	RCV001086365	SCV005404074	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.