ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.9648+106del (rs11571824)

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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) RCV000114140 SCV000245307 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 0.03 (African), derived from 1000 genomes (2012-04-30).
Invitae RCV000205892 SCV000262444 benign Hereditary breast and ovarian cancer syndrome 2016-03-19 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000501221 SCV000592299 likely benign not specified criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000114140 SCV000147684 uncertain significance Breast-ovarian cancer, familial 2 1998-11-30 no assertion criteria provided clinical testing
Clinical Genetics Laboratory, Department of Pathology,Netherlands Cancer Institute RCV000501221 SCV001906075 benign not specified no assertion criteria provided clinical testing

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