ClinVar Miner

Submissions for variant NM_007299.4(BRCA1):c.787+825C>T (rs80356893)

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Total submissions: 10
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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) RCV000077492 SCV000299626 pathogenic Breast-ovarian cancer, familial 1 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000077492 SCV000325108 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000507406 SCV000602689 pathogenic not specified 2016-10-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV000569665 SCV000665136 pathogenic Hereditary cancer-predisposing syndrome 2017-06-01 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Color RCV000569665 SCV000682973 pathogenic Hereditary cancer-predisposing syndrome 2017-04-13 criteria provided, single submitter clinical testing
GeneKor MSA RCV000585637 SCV000693510 pathogenic not provided 2017-11-01 criteria provided, single submitter clinical testing
Mendelics RCV000496261 SCV000839282 pathogenic Hereditary breast and ovarian cancer syndrome 2018-07-02 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000077492 SCV000109290 pathogenic Breast-ovarian cancer, familial 1 2008-04-25 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000077492 SCV000144143 pathogenic Breast-ovarian cancer, familial 1 2004-11-25 no assertion criteria provided clinical testing
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000496261 SCV000587151 pathogenic Hereditary breast and ovarian cancer syndrome 2014-01-31 no assertion criteria provided research

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