ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.8503T>C (p.Ser2835Pro) (rs11571746)

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Total submissions: 16
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000656624 SCV000885095 likely benign not provided 2017-07-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV000129146 SCV000183867 benign Hereditary cancer-predisposing syndrome 2014-11-19 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000113950 SCV000147386 benign Breast-ovarian cancer, familial 2 2002-05-29 no assertion criteria provided clinical testing
Color RCV000129146 SCV000683973 likely benign Hereditary cancer-predisposing syndrome 2015-04-24 criteria provided, single submitter clinical testing
Counsyl RCV000113950 SCV000154089 likely benign Breast-ovarian cancer, familial 2 2014-03-20 criteria provided, single submitter literature only
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000120364 SCV000592204 benign not specified 2013-06-20 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000120364 SCV000227606 benign not specified 2015-12-16 criteria provided, single submitter clinical testing
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research RCV000735612 SCV000863750 benign Breast and/or ovarian cancer 2013-04-13 no assertion criteria provided clinical testing
GeneDx RCV000120364 SCV000167411 benign not specified 2014-01-28 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 RCV000120364 SCV000084516 not provided not specified 2013-09-19 no assertion provided reference population
Illumina Clinical Services Laboratory,Illumina RCV000167840 SCV000383785 likely benign Hereditary breast and ovarian cancer syndrome 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000167840 SCV000494354 benign Hereditary breast and ovarian cancer syndrome 2014-09-29 criteria provided, single submitter clinical testing
Invitae RCV000167840 SCV000073553 benign Hereditary breast and ovarian cancer syndrome 2018-01-09 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000120364 SCV000538476 likely benign not specified 2016-03-28 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: ExAC: 0.7% (77/10388) African chromosomes
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000656624 SCV000778719 likely benign not provided 2018-02-05 no assertion criteria provided clinical testing
Pathway Genomics RCV000113950 SCV000223756 benign Breast-ovarian cancer, familial 2 2014-10-30 criteria provided, single submitter clinical testing

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