ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.1938C>T (p.Ser646=) (rs28897711)

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Total submissions: 23
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000168554 SCV000602817 benign not specified 2016-11-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV000162567 SCV000212980 likely benign Hereditary cancer-predisposing syndrome 2014-06-19 criteria provided, single submitter clinical testing
Baylor Genetics RCV000466510 SCV000541032 benign Familial cancer of breast 2017-02-23 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000112997 SCV000145982 benign Breast-ovarian cancer, familial 2 2002-12-23 no assertion criteria provided clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000768625 SCV000219312 likely benign Breast and/or ovarian cancer 2017-02-03 criteria provided, single submitter clinical testing
Cancer Genetics and Genomics Laboratory,British Columbia Cancer Agency RCV000168554 SCV000586933 benign not specified 2017-04-18 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000656590 SCV000780459 likely benign not provided 2018-02-28 criteria provided, single submitter clinical testing
Color RCV000162567 SCV000683463 benign Hereditary cancer-predisposing syndrome 2015-03-31 criteria provided, single submitter clinical testing
Counsyl RCV000112997 SCV000154092 likely benign Breast-ovarian cancer, familial 2 2014-03-24 criteria provided, single submitter literature only
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000112997 SCV000744422 benign Breast-ovarian cancer, familial 2 2015-09-21 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000168554 SCV000591784 benign not specified 2012-11-15 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000112997 SCV000733237 benign Breast-ovarian cancer, familial 2 no assertion criteria provided clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000168554 SCV000225175 benign not specified 2014-12-22 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000112997 SCV000578015 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 0.0014 (Non-Finnish European), derived from ExAC (2014-12-17).
GeneDx RCV000168554 SCV000167338 benign not specified 2013-12-04 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.
Genetic Services Laboratory, University of Chicago RCV000168554 SCV000593706 likely benign not specified 2016-05-16 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000330209 SCV000383644 likely benign Fanconi anemia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000043928 SCV000383645 likely benign Hereditary breast and ovarian cancer syndrome 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000043928 SCV000494304 benign Hereditary breast and ovarian cancer syndrome 2014-05-16 criteria provided, single submitter clinical testing
Invitae RCV000043928 SCV000071941 benign Hereditary breast and ovarian cancer syndrome 2018-01-13 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000656590 SCV000778650 likely benign not provided 2017-04-20 no assertion criteria provided clinical testing
Michigan Medical Genetics Laboratories,University of Michigan RCV000112997 SCV000267748 benign Breast-ovarian cancer, familial 2 2016-04-21 criteria provided, single submitter clinical testing
PreventionGenetics RCV000656590 SCV000805659 likely benign not provided 2016-11-23 criteria provided, single submitter clinical testing

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