ClinVar Miner

Submissions for variant NM_058216.3(RAD51C):c.376G>A (p.Ala126Thr) (rs61758784)

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Total submissions: 14
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000119170 SCV000153899 benign Fanconi anemia, complementation group O 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000212938 SCV000171271 benign not specified 2014-04-03 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.
Ambry Genetics RCV000129159 SCV000183887 benign Hereditary cancer-predisposing syndrome 2014-07-28 criteria provided, single submitter clinical testing This alteration is classified as 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.
PreventionGenetics,PreventionGenetics RCV000212938 SCV000315331 likely benign not specified criteria provided, single submitter clinical testing
Counsyl RCV000119170 SCV000489839 likely benign Fanconi anemia, complementation group O 2016-06-10 criteria provided, single submitter clinical testing
Counsyl RCV000411970 SCV000489840 likely benign Breast-ovarian cancer, familial 3 2016-06-10 criteria provided, single submitter clinical testing
Color RCV000129159 SCV000537389 benign Hereditary cancer-predisposing syndrome 2015-10-16 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000212938 SCV000602139 benign not specified 2016-07-15 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000658791 SCV000780586 likely benign not provided 2018-07-01 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000658791 SCV000807169 likely benign not provided 2016-04-14 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000212938 SCV000854882 benign not specified 2018-04-06 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000658791 SCV000888596 benign not provided 2016-07-15 criteria provided, single submitter clinical testing
Mendelics RCV000119170 SCV001140714 likely benign Fanconi anemia, complementation group O 2019-05-28 criteria provided, single submitter clinical testing
True Health Diagnostics RCV000129159 SCV000788200 likely benign Hereditary cancer-predisposing syndrome 2017-12-01 no assertion criteria provided clinical testing

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