ClinVar Miner

Submissions for variant NM_005431.2(XRCC2):c.40-16T>C

gnomAD frequency: 0.00141  dbSNP: rs41274991
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000213080 SCV000169846 benign not specified 2014-01-16 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.
Mendelics RCV000988020 SCV001137567 likely benign Fanconi anemia complementation group U 2019-05-28 criteria provided, single submitter clinical testing
Invitae RCV002055638 SCV002377616 benign not provided 2024-01-13 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV000988020 SCV004016294 benign Fanconi anemia complementation group U 2023-07-07 criteria provided, single submitter clinical testing
University of Washington Department of Laboratory Medicine, University of Washington RCV000126343 SCV000265492 likely benign Hereditary cancer-predisposing syndrome 2015-12-01 no assertion criteria provided clinical testing

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