ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.2370del (p.Glu790fs)

dbSNP: rs398122747
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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) RCV000077685 SCV000300513 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.
Sharing Clinical Reports Project (SCRP) RCV000077685 SCV000109488 pathogenic Breast-ovarian cancer, familial, susceptibility to, 2 2010-07-08 no assertion criteria provided clinical testing

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