ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.1175_1215del (p.Leu392fs)

dbSNP: rs397507180
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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) RCV000030975 SCV000783591 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2017-12-15 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Sharing Clinical Reports Project (SCRP) RCV000030975 SCV000053567 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2008-09-16 no assertion criteria provided clinical testing

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