ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.4485-63C>G (rs273900734)

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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) RCV000191319 SCV000244669 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), 0.3588 (European), derived from 1000 genomes (2012-04-30).
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000503804 SCV000591522 benign not specified criteria provided, single submitter clinical testing
GeneKor MSA RCV000503804 SCV000693615 benign not specified 2017-11-01 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000191319 SCV000743393 benign Breast-ovarian cancer, familial 1 2014-10-09 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000191319 SCV000145104 uncertain significance Breast-ovarian cancer, familial 1 1999-06-22 no assertion criteria provided clinical testing

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