Submissions for variant NM_058216.3(RAD51C):c.1128A>G (p.Leu376=)

dbSNP: rs545024029

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000166761	SCV000217574	likely benign	Hereditary cancer-predisposing syndrome	2014-10-29	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: 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.
GeneDx	RCV000423579	SCV000529748	likely benign	not specified	2016-07-08	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.
Invitae	RCV000546857	SCV000660359	likely benign	Fanconi anemia complementation group O	2024-01-12	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000166761	SCV001358460	likely benign	Hereditary cancer-predisposing syndrome	2019-03-15	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000423579	SCV002068095	uncertain significance	not specified	2020-04-10	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000166761	SCV002531791	uncertain significance	Hereditary cancer-predisposing syndrome	2021-12-21	criteria provided, single submitter	curation