ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.3819_3823del (p.Gln1273fs)

dbSNP: rs886037785
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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) RCV000661216 SCV000783476 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.
Laboratory of Molecular Diagnosis of Cancer, West China Hospital, Sichuan University RCV000240734 SCV000265856 pathogenic Breast neoplasm 2015-11-01 criteria provided, single submitter research

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