ClinVar Miner

Submissions for variant NM_058216.3(RAD51C):c.572-17G>T

gnomAD frequency: 0.00513  dbSNP: rs193023469
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Total submissions: 20
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000212942 SCV000171265 benign not specified 2013-10-23 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.
PreventionGenetics, part of Exact Sciences RCV000212942 SCV000315332 likely benign not specified criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000127686 SCV000686363 likely benign Hereditary cancer-predisposing syndrome 2015-04-03 criteria provided, single submitter clinical testing
Mendelics RCV000989961 SCV001140717 likely benign Fanconi anemia complementation group O 2019-05-28 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV001262197 SCV001439982 likely benign Breast-ovarian cancer, familial, susceptibility to, 3 2019-01-01 criteria provided, single submitter clinical testing This variant was identified as compound heterozygous.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000679801 SCV001474144 benign not provided 2023-10-09 criteria provided, single submitter clinical testing
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV000679801 SCV002010650 likely benign not provided 2021-11-03 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001798427 SCV002043690 benign Breast and/or ovarian cancer 2023-02-09 criteria provided, single submitter clinical testing
Invitae RCV000989961 SCV002424701 benign Fanconi anemia complementation group O 2024-02-01 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV000212942 SCV002551134 likely benign not specified 2023-08-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV000127686 SCV002650635 likely benign Hereditary cancer-predisposing syndrome 2015-06-30 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.
Fulgent Genetics, Fulgent Genetics RCV002498629 SCV002813195 likely benign Breast-ovarian cancer, familial, susceptibility to, 3; Fanconi anemia complementation group O 2021-08-04 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000679801 SCV003917955 likely benign not provided 2023-05-01 criteria provided, single submitter clinical testing RAD51C: BS2
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV001262197 SCV004017246 benign Breast-ovarian cancer, familial, susceptibility to, 3 2023-07-07 criteria provided, single submitter clinical testing
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV001262197 SCV004805809 benign Breast-ovarian cancer, familial, susceptibility to, 3 2024-03-29 criteria provided, single submitter clinical testing
University of Washington Department of Laboratory Medicine, University of Washington RCV000127686 SCV000265441 likely benign Hereditary cancer-predisposing syndrome 2015-12-01 no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000212942 SCV001808682 benign not specified no assertion criteria provided clinical testing
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute RCV000679801 SCV001906071 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000679801 SCV001959140 likely benign not provided no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000679801 SCV002035934 likely benign not provided no assertion criteria provided clinical testing

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