ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.3157_3168delinsAG (p.Leu1053fs)

dbSNP: rs1555283070
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Total submissions: 1
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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) RCV000661534 SCV000783825 pathogenic Breast-ovarian cancer, familial, susceptibility to, 2 2017-12-15 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.

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