ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.8632+132dup

gnomAD frequency: 0.00742  dbSNP: rs201392123
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Total submissions: 5
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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) RCV000191763 SCV000245180 benign Breast-ovarian cancer, familial, susceptibility to, 2 2015-01-12 reviewed by expert panel curation Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.05 (African), derived from 1000 genomes (2012-04-30).
Department of Pathology and Laboratory Medicine, Sinai Health System RCV000502095 SCV000592214 likely benign not specified 2017-10-25 criteria provided, single submitter clinical testing
GeneDx RCV001556487 SCV001778077 likely benign not provided 2021-01-09 criteria provided, single submitter clinical testing
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute RCV000502095 SCV001905695 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000502095 SCV001972671 benign not specified no assertion criteria provided clinical testing

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