ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.6853A>G (p.Ile2285Val) (rs56272235)

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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 RCV000501461 SCV000602879 benign not specified 2015-12-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV000162602 SCV000213026 benign Hereditary cancer-predisposing syndrome 2014-11-19 criteria provided, single submitter clinical testing
Biesecker Lab/Human Development Section,National Institutes of Health RCV000034457 SCV000043224 variant of unknown significance not provided 2012-07-13 no assertion criteria provided research Converted during submission to Uncertain significance.
Breast Cancer Information Core (BIC) (BRCA2) RCV000031652 SCV000146965 uncertain significance Breast-ovarian cancer, familial 2 2002-05-29 no assertion criteria provided clinical testing
Color RCV000162602 SCV000683823 benign Hereditary cancer-predisposing syndrome 2014-12-15 criteria provided, single submitter clinical testing
Counsyl RCV000031652 SCV000154056 likely benign Breast-ovarian cancer, familial 2 2014-01-02 criteria provided, single submitter literature only
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000031652 SCV000744502 benign Breast-ovarian cancer, familial 2 2015-09-21 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000501461 SCV000592079 benign not specified 2016-02-01 criteria provided, single submitter clinical testing
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000045081 SCV000296857 benign Hereditary breast and ovarian cancer syndrome 2015-10-04 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000031652 SCV000244469 benign Breast-ovarian cancer, familial 2 2015-08-10 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 = 0.00000000026
Fulgent Genetics,Fulgent Genetics RCV000031652 SCV000575758 likely benign Breast-ovarian cancer, familial 2 2016-02-08 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000031652 SCV000743325 likely benign Breast-ovarian cancer, familial 2 2014-10-09 criteria provided, single submitter clinical testing
Invitae RCV000045081 SCV000073094 benign Hereditary breast and ovarian cancer syndrome 2018-01-05 criteria provided, single submitter clinical testing
Michigan Medical Genetics Laboratories,University of Michigan RCV000031652 SCV000267800 benign Breast-ovarian cancer, familial 2 2016-04-21 criteria provided, single submitter clinical testing
Pathway Genomics RCV000031652 SCV000223765 benign Breast-ovarian cancer, familial 2 2014-10-30 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000031652 SCV000054259 benign Breast-ovarian cancer, familial 2 2008-01-16 no assertion criteria provided clinical testing

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