ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.9649-19G>A (rs11571830)

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Total submissions: 14
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000124015 SCV000602835 benign not specified 2016-12-01 criteria provided, single submitter clinical testing
Baylor Genetics RCV000461516 SCV000541043 benign Familial cancer of breast 2017-02-23 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000114144 SCV000147688 benign Breast-ovarian cancer, familial 2 1999-04-12 no assertion criteria provided clinical testing
Color RCV000579840 SCV000684080 benign Hereditary cancer-predisposing syndrome 2015-04-13 criteria provided, single submitter clinical testing
Counsyl RCV000114144 SCV000154052 benign Breast-ovarian cancer, familial 2 2014-01-02 criteria provided, single submitter literature only
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000114144 SCV000744790 benign Breast-ovarian cancer, familial 2 2015-09-21 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000124015 SCV000592300 benign not specified criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000114144 SCV000245312 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 0.01748 (Asian), derived from 1000 genomes (2012-04-30).
GeneDx RCV000124015 SCV000167421 benign not specified 2013-10-29 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 RCV000124015 SCV000693647 benign not specified 2017-11-01 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000114144 SCV000743527 likely benign Breast-ovarian cancer, familial 2 2017-07-28 criteria provided, single submitter clinical testing
Invitae RCV000045877 SCV000073890 benign Hereditary breast and ovarian cancer syndrome 2018-01-08 criteria provided, single submitter clinical testing
Michigan Medical Genetics Laboratories,University of Michigan RCV000114144 SCV000267831 benign Breast-ovarian cancer, familial 2 2016-04-21 criteria provided, single submitter clinical testing
PreventionGenetics RCV000124015 SCV000805798 benign not specified 2017-10-20 criteria provided, single submitter clinical testing

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