ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.2803G>A (p.Asp935Asn) (rs28897716)

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Total submissions: 20
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000120336 SCV000602765 benign not specified 2016-03-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000129118 SCV000183834 benign Hereditary cancer-predisposing syndrome 2014-11-19 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000083092 SCV000146113 benign Breast-ovarian cancer, familial 2 2002-05-29 no assertion criteria provided clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000768590 SCV000219318 likely benign Breast and/or ovarian cancer 2017-07-31 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000679163 SCV000892065 likely benign not provided 2018-09-30 criteria provided, single submitter clinical testing
Color RCV000129118 SCV000683501 likely benign Hereditary cancer-predisposing syndrome 2015-04-22 criteria provided, single submitter clinical testing
Counsyl RCV000083092 SCV000154040 likely benign Breast-ovarian cancer, familial 2 2014-01-02 criteria provided, single submitter literature only
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000083092 SCV000744429 benign Breast-ovarian cancer, familial 2 2015-09-21 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000120336 SCV000591825 benign not specified 2013-12-27 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000083092 SCV000733239 benign Breast-ovarian cancer, familial 2 no assertion criteria provided clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000120336 SCV000225169 likely benign not specified 2014-09-10 criteria provided, single submitter clinical testing
GeneDx RCV000120336 SCV000167347 benign not specified 2013-11-06 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.
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000083092 SCV000743276 benign Breast-ovarian cancer, familial 2 2014-10-09 criteria provided, single submitter clinical testing
ITMI RCV000120336 SCV000084488 not provided not specified 2013-09-19 no assertion provided reference population
Illumina Clinical Services Laboratory,Illumina RCV000044061 SCV000383659 likely benign Hereditary breast and ovarian cancer syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000397028 SCV000383660 likely benign Fanconi anemia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000044061 SCV000072074 benign Hereditary breast and ovarian cancer syndrome 2018-01-10 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000120336 SCV000538472 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: Multiple publications classify as VUS/not pathogenic; ExAC: 0.1% (57/66390) European chromosomes
PreventionGenetics RCV000679163 SCV000805677 likely benign not provided 2017-08-15 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000083092 SCV000115166 benign Breast-ovarian cancer, familial 2 2012-05-01 no assertion criteria provided clinical testing

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