ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.5152+66G>A (rs3092994)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Breast Cancer Information Core (BIC) (BRCA1) RCV000112521 SCV000145343 not provided Breast-ovarian cancer, familial 1 no assertion provided clinical testing
Color RCV000579853 SCV000683261 benign Hereditary cancer-predisposing syndrome 2014-12-10 criteria provided, single submitter clinical testing
Counsyl RCV000112521 SCV000785546 benign Breast-ovarian cancer, familial 1 2017-09-06 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000112521 SCV000744596 benign Breast-ovarian cancer, familial 1 2015-09-21 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000242726 SCV000591585 benign not specified criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000242726 SCV000700744 benign not specified 2016-11-09 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000112521 SCV000244611 benign Breast-ovarian cancer, familial 1 2015-01-12 reviewed by expert panel curation Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.3304 (Asian), 0.2154 (African), 0.3615 (European), derived from 1000 genomes (2012-04-30).
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000112521 SCV000743379 benign Breast-ovarian cancer, familial 1 2014-10-09 criteria provided, single submitter clinical testing
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000048825 SCV000148880 untested Familial cancer of breast no assertion provided not provided Converted during submission to not provided.
PreventionGenetics RCV000242726 SCV000311799 benign not specified criteria provided, single submitter clinical testing

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