Submissions for variant NM_004329.3(BMPR1A):c.300T>C (p.Cys100=)

dbSNP: rs754180012

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000444769	SCV000529484	likely benign	not specified	2016-06-30	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000635498	SCV000756912	likely benign	Juvenile polyposis syndrome	2024-08-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001018050	SCV001179229	likely benign	Hereditary cancer-predisposing syndrome	2019-12-19	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	RCV001018050	SCV001351991	likely benign	Hereditary cancer-predisposing syndrome	2019-04-09	criteria provided, single submitter	clinical testing
Myriad Genetics, Inc.	RCV000635498	SCV005406691	benign	Juvenile polyposis syndrome	2024-07-31	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.