Submissions for variant NM_004329.3(BMPR1A):c.1395G>A (p.Pro465=)

dbSNP: rs55845713

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001719999	SCV000515528	likely benign	not provided	2018-09-11	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000463263	SCV000562740	likely benign	Juvenile polyposis syndrome	2023-12-26	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000562816	SCV000668329	likely benign	Hereditary cancer-predisposing syndrome	2015-10-12	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	RCV000562816	SCV000903824	likely benign	Hereditary cancer-predisposing syndrome	2018-03-09	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000428241	SCV001469367	benign	not specified	2019-12-17	criteria provided, single submitter	clinical testing
Myriad Genetics, Inc.	RCV000463263	SCV005406655	benign	Juvenile polyposis syndrome	2024-08-08	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.
True Health Diagnostics	RCV000562816	SCV000787889	likely benign	Hereditary cancer-predisposing syndrome	2017-10-10	no assertion criteria provided	clinical testing