Submissions for variant NM_058216.3(RAD51C):c.945T>C (p.Phe315=)

gnomAD frequency: 0.00002  dbSNP: rs201235884

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000167504	SCV000218362	likely benign	Hereditary cancer-predisposing syndrome	2014-12-30	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.
Invitae	RCV000206428	SCV000260891	likely benign	Fanconi anemia complementation group O	2024-01-14	criteria provided, single submitter	clinical testing
GeneDx	RCV000426983	SCV000514349	benign	not specified	2015-04-13	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.
Color Diagnostics, LLC DBA Color Health	RCV000167504	SCV000691292	likely benign	Hereditary cancer-predisposing syndrome	2017-01-09	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000426983	SCV001363652	benign	not specified	2019-09-05	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV003491919	SCV004239997	likely benign	Breast and/or ovarian cancer	2023-03-03	criteria provided, single submitter	clinical testing