ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.6513G>C (p.Val2171=) (rs206076)

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Total submissions: 21
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000656614 SCV000602743 benign not provided 2017-05-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000162377 SCV000212687 benign Hereditary cancer-predisposing syndrome 2014-11-19 criteria provided, single submitter clinical testing
Baylor Genetics RCV000464673 SCV000541018 benign Familial cancer of breast 2017-02-23 criteria provided, single submitter clinical testing
Cancer Genetics and Genomics Laboratory,British Columbia Cancer Agency RCV000152878 SCV000586969 benign not specified 2017-04-18 criteria provided, single submitter clinical testing
Color RCV000162377 SCV000537316 benign Hereditary cancer-predisposing syndrome 2015-03-31 criteria provided, single submitter clinical testing
Counsyl RCV000119246 SCV000154059 benign Breast-ovarian cancer, familial 2 2014-01-02 criteria provided, single submitter literature only High frequency in a 1kG or ESP population: 99.9 %.
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000152878 SCV000592061 benign not specified 2012-04-05 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000119246 SCV000733283 benign Breast-ovarian cancer, familial 2 no assertion criteria provided clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000152878 SCV000202293 benign not specified 2018-03-06 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000119246 SCV000245036 benign Breast-ovarian cancer, familial 2 2015-01-12 reviewed by expert panel curation Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.8902 (African), derived from 1000 genomes (2012-04-30).
GeneDx RCV000152878 SCV000167382 benign not specified 2014-06-23 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.
GeneKor MSA RCV000152878 SCV000693639 benign not specified 2017-11-01 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000119246 SCV000743322 benign Breast-ovarian cancer, familial 2 2014-10-10 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000261979 SCV000383746 benign Fanconi anemia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000257903 SCV000383747 benign Hereditary breast and ovarian cancer syndrome 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000257903 SCV000494339 benign Hereditary breast and ovarian cancer syndrome 2013-12-20 criteria provided, single submitter clinical testing
Invitae RCV000257903 SCV000635514 benign Hereditary breast and ovarian cancer syndrome 2017-07-10 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000152878 SCV000605771 benign not specified 2016-12-19 criteria provided, single submitter clinical testing This variant is not expected to have clinical significance because it does not a lter an amino acid residue and is not located within the splice consensus sequen ce. It has been identified in over 99% of total chromosomes by the Exome Aggreg ation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs206076).
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000656614 SCV000778699 benign not provided 2016-11-28 no assertion criteria provided clinical testing
Michigan Medical Genetics Laboratories,University of Michigan RCV000119246 SCV000195998 benign Breast-ovarian cancer, familial 2 2014-11-03 criteria provided, single submitter clinical testing
PreventionGenetics RCV000152878 SCV000301767 benign not specified criteria provided, single submitter clinical testing

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