ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.6803G>A (p.Arg2268Lys) (rs80358906)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000131556 SCV000186558 benign Hereditary cancer-predisposing syndrome 2016-08-22 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Seen in trans with a mutation or in homozygous state in individual without severe disease for that gene
Breast Cancer Information Core (BIC) (BRCA2) RCV000077385 SCV000146938 uncertain significance Breast-ovarian cancer, familial 2 2004-02-20 no assertion criteria provided clinical testing
Color RCV000131556 SCV000902982 likely benign Hereditary cancer-predisposing syndrome 2016-04-28 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000045055 SCV000592075 uncertain significance not specified 2012-03-27 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000587611 SCV000225158 uncertain significance not provided 2015-03-12 criteria provided, single submitter clinical testing
GeneDx RCV000045055 SCV000210636 likely benign not specified 2017-07-27 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.
Integrated Genetics/Laboratory Corporation of America RCV000587611 SCV000694997 uncertain significance not provided 2015-07-06 criteria provided, single submitter clinical testing
Invitae RCV000195333 SCV000073068 likely benign Hereditary breast and ovarian cancer syndrome 2017-11-16 criteria provided, single submitter clinical testing
Michigan Medical Genetics Laboratories,University of Michigan RCV000077385 SCV000195999 uncertain significance Breast-ovarian cancer, familial 2 2014-11-03 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000045055 SCV000600719 uncertain significance not specified 2017-04-10 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000077385 SCV000109182 benign Breast-ovarian cancer, familial 2 2010-12-28 no assertion criteria provided clinical testing

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