ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.3939del (p.Asn1312_Tyr1313insTer)

dbSNP: rs276174838
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Total submissions: 3
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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) RCV000113247 SCV000300688 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.
Breast Cancer Information Core (BIC) (BRCA2) RCV000113247 SCV000146341 pathogenic Breast-ovarian cancer, familial, susceptibility to, 2 2007-02-23 no assertion criteria provided clinical testing
CZECANCA consortium RCV001271034 SCV001451851 pathogenic Breast and/or ovarian cancer 2019-06-11 no assertion criteria provided clinical testing

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