ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.1506_1510del (p.Leu502_Lys503insTer)

dbSNP: rs397508876
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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) RCV000661082 SCV000783329 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.
ClinVar Staff, National Center for Biotechnology Information (NCBI) RCV000577210 SCV000679205 not provided Familial cancer of breast no assertion provided literature only

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