ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.9649-20C>T (rs56177715)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000506937 SCV000602789 benign not specified 2016-10-12 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000083163 SCV000147689 uncertain significance Breast-ovarian cancer, familial 2 2002-05-29 no assertion criteria provided clinical testing
Color RCV000580656 SCV000684081 benign Hereditary cancer-predisposing syndrome 2015-04-22 criteria provided, single submitter clinical testing
Counsyl RCV000083163 SCV000220725 likely benign Breast-ovarian cancer, familial 2 2014-09-23 criteria provided, single submitter literature only
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000083163 SCV000744789 benign Breast-ovarian cancer, familial 2 2015-09-21 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000083163 SCV000733339 likely benign Breast-ovarian cancer, familial 2 no assertion criteria provided clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000083163 SCV000244496 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 = 0.0000116
Invitae RCV000045878 SCV000073891 benign Hereditary breast and ovarian cancer syndrome 2017-12-18 criteria provided, single submitter clinical testing
PreventionGenetics RCV000679199 SCV000805799 likely benign not provided 2017-10-05 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000083163 SCV000115237 benign Breast-ovarian cancer, familial 2 2012-05-01 no assertion criteria provided clinical testing

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