ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.679G>T (p.Glu227Ter) (rs879255319)

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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) RCV000661105 SCV000783353 pathogenic Breast-ovarian cancer, familial 1 2017-12-15 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
GeneKor MSA RCV000238591 SCV000296786 pathogenic not specified 2016-07-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000574782 SCV000665807 pathogenic Hereditary cancer-predisposing syndrome 2018-03-16 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)
Mendelics RCV000709490 SCV000839298 pathogenic Hereditary breast and ovarian cancer syndrome 2018-07-02 criteria provided, single submitter clinical testing

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