ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.7008-62A>G (rs76584943)

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Total submissions: 14
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000113690 SCV001161615 benign Breast-ovarian cancer, familial 2 2019-06-18 reviewed by expert panel curation IARC class based on posterior probability from multifactorial likelihood analysis, thresholds for class as per Plon et al. 2008 (PMID: 18951446). Class 1 based on posterior probability = 8.83E-264
Invitae RCV000045119 SCV000073132 benign Hereditary breast and ovarian cancer syndrome 2015-11-13 criteria provided, single submitter clinical testing
Counsyl RCV000113690 SCV000154103 benign Breast-ovarian cancer, familial 2 2014-04-12 criteria provided, single submitter literature only
Pathway Genomics RCV000113690 SCV000223771 benign Breast-ovarian cancer, familial 2 2014-10-30 criteria provided, single submitter clinical testing
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000045119 SCV000257616 uncertain significance Hereditary breast and ovarian cancer syndrome 2015-02-16 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000500825 SCV000592090 likely benign not specified criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV000500825 SCV000593728 benign not specified 2017-10-26 criteria provided, single submitter clinical testing
Color RCV000579764 SCV000683842 benign Hereditary cancer-predisposing syndrome 2014-12-05 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000500825 SCV000706892 benign not specified 2017-03-30 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000113690 SCV000743327 benign Breast-ovarian cancer, familial 2 2014-10-09 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000679183 SCV000805754 likely benign not provided 2016-05-25 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000679183 SCV000892066 likely benign not provided 2019-04-01 criteria provided, single submitter clinical testing
Mendelics RCV000113690 SCV001139168 benign Breast-ovarian cancer, familial 2 2019-05-28 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000113690 SCV000146999 uncertain significance Breast-ovarian cancer, familial 2 2010-12-17 no assertion criteria provided clinical testing

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