ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.2593G>T (p.Glu865Ter)

dbSNP: rs587782014
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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) RCV000257089 SCV000324091 pathogenic Breast-ovarian cancer, familial, susceptibility to, 2 2016-10-18 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000257089 SCV000326728 pathogenic Breast-ovarian cancer, familial, susceptibility to, 2 2015-10-02 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System RCV000502188 SCV000591813 likely pathogenic Hereditary breast ovarian cancer syndrome criteria provided, single submitter clinical testing

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