Submissions for variant NM_058216.3(RAD51C):c.146-8A>G

gnomAD frequency: 0.00074  dbSNP: rs201079501

Total submissions: 19

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000123369	SCV000166692	benign	Fanconi anemia complementation group O	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV000127688	SCV000171267	benign	not specified	2013-11-01	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.
Counsyl	RCV000123369	SCV000489803	uncertain significance	Fanconi anemia complementation group O	2016-06-09	criteria provided, single submitter	clinical testing
Counsyl	RCV000409786	SCV000489804	uncertain significance	Breast-ovarian cancer, familial, susceptibility to, 3	2016-06-09	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000127688	SCV000602135	benign	not specified	2021-08-13	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000579930	SCV000686327	benign	Hereditary cancer-predisposing syndrome	2015-01-15	criteria provided, single submitter	clinical testing
Counsyl	RCV000662404	SCV000784823	benign	Breast-ovarian cancer, familial, susceptibility to, 3; Fanconi anemia complementation group O	2017-01-05	criteria provided, single submitter	clinical testing
Mendelics	RCV000123369	SCV001140711	likely benign	Fanconi anemia complementation group O	2019-05-28	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000409786	SCV001285752	likely benign	Breast-ovarian cancer, familial, susceptibility to, 3	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina	RCV000123369	SCV001285753	benign	Fanconi anemia complementation group O	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
CeGaT Center for Human Genetics Tuebingen	RCV001815236	SCV002063640	likely benign	not provided	2024-05-01	criteria provided, single submitter	clinical testing	RAD51C: BP4, BS1
Genetic Services Laboratory, University of Chicago	RCV000127688	SCV002072237	benign	not specified	2021-11-04	criteria provided, single submitter	clinical testing
Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C.	RCV002509230	SCV002819173	benign	Hereditary breast ovarian cancer syndrome	2022-08-18	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV003149847	SCV003837695	benign	Breast and/or ovarian cancer	2021-06-04	criteria provided, single submitter	clinical testing
Myriad Genetics, Inc.	RCV000409786	SCV004019895	benign	Breast-ovarian cancer, familial, susceptibility to, 3	2023-04-05	criteria provided, single submitter	clinical testing	This variant is considered benign. This variant is intronic and is not expected to impact mRNA splicing. This variant has been observed at a population frequency that is significantly greater than expected given the associated disease prevalence and penetrance.
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV000127688	SCV004026854	likely benign	not specified	2023-08-15	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001815236	SCV004562987	benign	not provided	2023-08-14	criteria provided, single submitter	clinical testing
True Health Diagnostics	RCV000579930	SCV000788198	likely benign	Hereditary cancer-predisposing syndrome	2017-09-29	no assertion criteria provided	clinical testing
Leiden Open Variation Database	RCV000127688	SCV001365245	likely benign	not specified	2014-11-02	no assertion criteria provided	curation	Curator: Arleen D. Auerbach. Submitter to LOVD: Christine Rappaport.