ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.7626G>A (p.Thr2542=) (rs61754138)

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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 RCV000755876 SCV000883518 benign not provided 2018-01-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV000162530 SCV000212928 benign Hereditary cancer-predisposing syndrome 2015-11-17 criteria provided, single submitter clinical testing
Baylor Miraca Genetics Laboratories, RCV000460388 SCV000541040 benign Familial cancer of breast 2017-02-23 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000113797 SCV000147150 uncertain significance Breast-ovarian cancer, familial 2 2010-12-17 no assertion criteria provided clinical testing
Color RCV000162530 SCV000683895 benign Hereditary cancer-predisposing syndrome 2015-04-02 criteria provided, single submitter clinical testing
Counsyl RCV000113797 SCV000154047 likely benign Breast-ovarian cancer, familial 2 2014-01-02 criteria provided, single submitter literature only
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000174985 SCV000592133 benign not specified 2016-09-27 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000174985 SCV000226400 benign not specified 2014-09-30 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000113797 SCV000245116 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 0.02033 (African), derived from 1000 genomes (2012-04-30).
GeneDx RCV000174985 SCV000167400 benign not specified 2013-10-24 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.
Illumina Clinical Services Laboratory,Illumina RCV000045270 SCV000383771 likely benign Hereditary breast and ovarian cancer syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000276951 SCV000383772 likely benign Fanconi anemia 2016-06-14 criteria provided, single submitter clinical testing
Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C. RCV000045270 SCV000576436 likely benign Hereditary breast and ovarian cancer syndrome 2017-02-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000045270 SCV000494353 benign Hereditary breast and ovarian cancer syndrome 2014-01-22 criteria provided, single submitter clinical testing
Invitae RCV000045270 SCV000073283 benign Hereditary breast and ovarian cancer syndrome 2018-01-09 criteria provided, single submitter clinical testing
PreventionGenetics RCV000174985 SCV000805767 benign not specified 2017-08-11 criteria provided, single submitter clinical testing

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