ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.7522G>A (p.Gly2508Ser) (rs80358978)

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Total submissions: 14
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3DMed Clinical Laboratory Inc RCV000677860 SCV000804021 uncertain significance Infiltrating duct carcinoma of breast 2017-07-21 criteria provided, single submitter clinical testing
3DMed Clinical Laboratory Inc RCV000677861 SCV000804022 uncertain significance Ovarian cancer 2017-07-21 criteria provided, single submitter clinical testing
3DMed Clinical Laboratory Inc RCV000677862 SCV000804023 uncertain significance Cancer of the pancreas 2017-07-21 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000120359 SCV000602837 uncertain significance not specified 2016-12-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV000164682 SCV000215349 uncertain significance Hereditary cancer-predisposing syndrome 2018-01-03 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Breast Cancer Information Core (BIC) (BRCA2) RCV000077404 SCV000147112 uncertain significance Breast-ovarian cancer, familial 2 2004-02-20 no assertion criteria provided clinical testing
Color RCV000164682 SCV000910752 likely benign Hereditary cancer-predisposing syndrome 2016-11-13 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000120359 SCV000592120 uncertain significance not specified 2016-07-15 criteria provided, single submitter clinical testing
GeneDx RCV000120359 SCV000210654 likely benign not specified 2017-12-07 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.
ITMI RCV000120359 SCV000084511 not provided not specified 2013-09-19 no assertion provided reference population
Integrated Genetics/Laboratory Corporation of America RCV000587308 SCV000695074 likely benign not provided 2016-03-07 criteria provided, single submitter clinical testing
Invitae RCV000203651 SCV000073249 benign Hereditary breast and ovarian cancer syndrome 2017-12-27 criteria provided, single submitter clinical testing
Laboratory of Molecular Diagnosis of Cancer,West China Hospital, Sichuan University RCV000240741 SCV000265956 uncertain significance Neoplasm of the breast 2015-11-01 criteria provided, single submitter research
Sharing Clinical Reports Project (SCRP) RCV000077404 SCV000109201 likely benign Breast-ovarian cancer, familial 2 2008-10-07 no assertion criteria provided clinical testing

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