ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.1252G>T (p.Glu418Ter) (rs80357083)

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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) RCV000111573 SCV000299564 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 RCV000111573 SCV000324996 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV000566344 SCV000660936 pathogenic Hereditary cancer-predisposing syndrome 2016-09-08 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 RCV000566344 SCV000682942 pathogenic Hereditary cancer-predisposing syndrome 2017-04-06 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000111573 SCV000144040 pathogenic Breast-ovarian cancer, familial 1 1998-03-04 no assertion criteria provided clinical testing

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