ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.5112del (p.Phe1704_Leu1705insTer) (rs397509228)

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Total submissions: 2
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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) RCV000241357 SCV000300203 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 RCV000129513 SCV000184287 pathogenic Hereditary cancer-predisposing syndrome 2014-01-27 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)

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