Submissions for variant NM_004329.3(BMPR1A):c.1293C>T (p.Tyr431=)

dbSNP: rs1554891344

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Color Diagnostics, LLC DBA Color Health	RCV000582397	SCV000688235	likely benign	Hereditary cancer-predisposing syndrome	2017-05-29	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001482366	SCV001686732	likely benign	Juvenile polyposis syndrome	2025-01-06	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000582397	SCV002689544	likely benign	Hereditary cancer-predisposing syndrome	2017-09-25	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.
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV003321689	SCV004027593	likely benign	not specified	2025-03-04	criteria provided, single submitter	clinical testing
Myriad Genetics, Inc.	RCV001482366	SCV005405385	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.
All of Us Research Program, National Institutes of Health	RCV001482366	SCV005425418	likely benign	Juvenile polyposis syndrome	2024-08-06	criteria provided, single submitter	clinical testing