ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.3013del (p.Glu1005fs) (rs80357937)

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Total submissions: 6
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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) RCV000077533 SCV000299871 pathogenic Breast-ovarian cancer, familial 1 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Ambry Genetics RCV000213487 SCV000276535 pathogenic Hereditary cancer-predisposing syndrome 2016-09-30 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)
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000077533 SCV000325527 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
Color RCV000213487 SCV000909324 pathogenic Hereditary cancer-predisposing syndrome 2018-07-23 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000077533 SCV000109334 pathogenic Breast-ovarian cancer, familial 1 2007-05-03 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000077533 SCV000144608 pathogenic Breast-ovarian cancer, familial 1 2002-05-29 no assertion criteria provided clinical testing

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