ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.160C>T (p.Gln54Ter) (rs80356864)

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Total submissions: 4
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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) RCV000111916 SCV000299416 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 RCV000131840 SCV000186895 pathogenic Hereditary cancer-predisposing syndrome 2013-12-05 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 RCV000111916 SCV000325107 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000111916 SCV000144510 pathogenic Breast-ovarian cancer, familial 1 2002-06-20 no assertion criteria provided clinical testing

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