ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.9152del (p.Pro3051fs)

dbSNP: rs587779349
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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) RCV000241141 SCV000301356 pathogenic Breast-ovarian cancer, familial, susceptibility to, 2 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV000115039 SCV000108407 pathogenic Ateleiotic dwarfism no assertion criteria provided research

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