ClinVar Miner

Submissions for variant NM_007297.4(BRCA1):c.407-58del (rs8176144)

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Total submissions: 7
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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 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).
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000503007 SCV000591284 benign not specified criteria provided, single submitter clinical testing
Color 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
Breast Cancer Information Core (BIC) (BRCA1) RCV000112738 SCV000145621 benign Breast-ovarian cancer, familial 1 2004-02-20 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000112738 SCV000145623 uncertain significance Breast-ovarian cancer, familial 1 2011-03-02 no assertion criteria provided clinical testing
Sharing Clinical Reports Project (SCRP) RCV000112738 SCV000189288 benign Breast-ovarian cancer, familial 1 2011-03-15 no assertion criteria provided clinical testing

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