ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.7806-40A>G (rs9590939)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000503364 SCV000602769 benign not specified 2016-05-23 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000113826 SCV000147194 uncertain significance Breast-ovarian cancer, familial 2 2007-01-18 no assertion criteria provided clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000503364 SCV000592146 likely benign not specified 2017-10-25 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000113826 SCV000245135 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 0.03049 (African), derived from 1000 genomes (2012-04-30).
Invitae RCV000045322 SCV000073335 benign Hereditary breast and ovarian cancer syndrome 2016-03-31 criteria provided, single submitter clinical testing
Michigan Medical Genetics Laboratories,University of Michigan RCV000113826 SCV000196009 benign Breast-ovarian cancer, familial 2 2014-11-03 criteria provided, single submitter clinical testing
University of Washington Department of Laboratory Medicine,University of Washington RCV000209000 SCV000265020 likely benign Hereditary cancer-predisposing syndrome 2015-12-01 no assertion criteria provided clinical testing

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