ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.548-58del

dbSNP: rs8176144
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Total submissions: 11
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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) RCV000112738 SCV000244756 benign Breast-ovarian cancer, familial, susceptibility to, 1 2015-01-12 reviewed by expert panel curation Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.33 (Asian), 0.13 (African), 0.35 (European), derived from 1000 genomes (2012-04-30).
Color Diagnostics, LLC DBA Color Health RCV000579943 SCV000683327 benign Hereditary cancer-predisposing syndrome 2015-03-05 criteria provided, single submitter clinical testing
GeneKor MSA RCV000503007 SCV000693602 benign not specified 2017-11-01 criteria provided, single submitter clinical testing
GeneDx RCV001353731 SCV001866156 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
National Health Laboratory Service, Universitas Academic Hospital and University of the Free State RCV002222165 SCV002026022 benign Hereditary breast ovarian cancer syndrome 2021-11-16 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000112738 SCV000145621 benign Breast-ovarian cancer, familial, susceptibility to, 1 2004-02-20 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000112738 SCV000145623 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 1 2011-03-02 no assertion criteria provided clinical testing
Sharing Clinical Reports Project (SCRP) RCV000112738 SCV000189288 benign Breast-ovarian cancer, familial, susceptibility to, 1 2011-03-15 no assertion criteria provided clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System RCV001353731 SCV000591284 uncertain significance not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000503007 SCV001926385 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000503007 SCV001969204 benign not specified no assertion criteria provided clinical testing

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