ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.3516G>A (p.Ser1172=) (rs1799952)

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Total submissions: 24
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000656597 SCV000602815 benign not provided 2017-06-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV000162494 SCV000212877 likely benign Hereditary cancer-predisposing syndrome 2014-06-13 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000113188 SCV000146252 not provided Breast-ovarian cancer, familial 2 no assertion provided clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000768627 SCV000219327 likely benign Breast and/or ovarian cancer 2016-06-01 criteria provided, single submitter clinical testing
Cancer Genetics and Genomics Laboratory,British Columbia Cancer Agency RCV000168565 SCV000586943 benign not specified 2017-04-18 criteria provided, single submitter clinical testing
Color RCV000162494 SCV000683565 benign Hereditary cancer-predisposing syndrome 2015-04-07 criteria provided, single submitter clinical testing
Counsyl RCV000113188 SCV000154043 likely benign Breast-ovarian cancer, familial 2 2014-01-02 criteria provided, single submitter literature only
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000113188 SCV000744440 benign Breast-ovarian cancer, familial 2 2015-09-21 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000168565 SCV000591866 benign not specified 2012-03-30 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000113188 SCV000733246 benign Breast-ovarian cancer, familial 2 no assertion criteria provided clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000168565 SCV000225173 benign not specified 2014-12-02 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000113188 SCV000578026 benign Breast-ovarian cancer, familial 2 2017-06-29 reviewed by expert panel curation Synonymous substitution variant, with low bioinformatic likelihood to alter mRNA splicing (splicing prior 0.02; http://priors.hci.utah.edu/PRIORS/) and frequency 0.0049 (Non-Finnish European), 0.003 (Finnish), 0.0012 (South Asian), derived from ExAC (2014-12-17).
Fulgent Genetics,Fulgent Genetics RCV000113188 SCV000575761 benign Breast-ovarian cancer, familial 2 2016-02-09 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000168565 SCV000593712 likely benign not specified 2016-11-16 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000113188 SCV000743286 likely benign Breast-ovarian cancer, familial 2 2014-10-10 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000044214 SCV000383685 likely benign Hereditary breast and ovarian cancer syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000268403 SCV000383686 likely benign Fanconi anemia 2016-06-14 criteria provided, single submitter clinical testing
Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C. RCV000162494 SCV000679714 likely benign Hereditary cancer-predisposing syndrome 2017-07-12 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000044214 SCV000494318 benign Hereditary breast and ovarian cancer syndrome 2014-04-22 criteria provided, single submitter clinical testing
Invitae RCV000044214 SCV000072227 benign Hereditary breast and ovarian cancer syndrome 2018-01-18 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000656597 SCV000778664 likely benign not provided 2017-07-21 no assertion criteria provided clinical testing
Michigan Medical Genetics Laboratories,University of Michigan RCV000113188 SCV000267760 benign Breast-ovarian cancer, familial 2 2016-04-21 criteria provided, single submitter clinical testing
PreventionGenetics RCV000168565 SCV000805694 benign not specified 2017-07-11 criteria provided, single submitter clinical testing
True Health Diagnostics RCV000162494 SCV000787928 likely benign Hereditary cancer-predisposing syndrome 2017-12-01 no assertion criteria provided clinical testing

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