ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.441+18CTT[6] (rs147856441)

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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) RCV000210985 SCV000321096 benign Breast-ovarian cancer, familial 1 2016-09-28 reviewed by expert panel curation Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.3559 (European), 0.3321 (African), 0.4006 (Admixed American/Latino), 0.3899 (East Asian), 0.5204 (South Asian), derived from 1000 genomes (2013-05-02).
Michigan Medical Genetics Laboratories,University of Michigan RCV000210985 SCV000195881 benign Breast-ovarian cancer, familial 1 2014-11-03 criteria provided, single submitter clinical testing
GeneDx RCV000159863 SCV000209911 benign Familial cancer of breast 2013-12-19 criteria provided, single submitter clinical testing The variant is found in HEREDICANCER panel(s).
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000501726 SCV000591269 benign not specified 2015-04-08 criteria provided, single submitter clinical testing
GeneKor MSA RCV000501726 SCV000693600 benign not specified 2017-11-01 criteria provided, single submitter clinical testing

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