ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.7397C>T (p.Ala2466Val) (rs169547)

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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000656618 SCV000602755 benign not provided 2017-05-03 criteria provided, single submitter clinical testing
Baylor Genetics RCV000476057 SCV000541025 benign Familial cancer of breast 2017-02-23 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000113751 SCV000147074 uncertain significance Breast-ovarian cancer, familial 2 2002-05-29 no assertion criteria provided clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000168597 SCV000219391 benign not specified no assertion criteria provided clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000113751 SCV000744515 benign Breast-ovarian cancer, familial 2 2015-09-21 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000113751 SCV000733298 benign Breast-ovarian cancer, familial 2 no assertion criteria provided clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000113751 SCV000245109 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 0.09553 (African), derived from 1000 genomes (2012-04-30).
GeneKor MSA RCV000168597 SCV000693642 benign not specified 2017-11-01 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000113751 SCV000743331 benign Breast-ovarian cancer, familial 2 2014-10-09 criteria provided, single submitter clinical testing
IntelligeneCG RCV000476057 SCV000611721 benign Familial cancer of breast 2017-08-18 criteria provided, single submitter clinical testing
Invitae RCV000203672 SCV000073210 benign Hereditary breast and ovarian cancer syndrome 2018-01-25 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000656618 SCV000778707 benign not provided 2016-11-28 no assertion criteria provided clinical testing
Michigan Medical Genetics Laboratories,University of Michigan RCV000113751 SCV000196004 benign Breast-ovarian cancer, familial 2 2016-04-21 criteria provided, single submitter clinical testing

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