ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.9257-18C>A (rs81002807)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000045765 SCV000073778 likely benign Hereditary breast and ovarian cancer syndrome 2017-08-09 criteria provided, single submitter clinical testing
Color RCV000581645 SCV000689185 likely benign Hereditary cancer-predisposing syndrome 2015-03-09 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000589582 SCV000695227 likely benign not provided 2016-07-22 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.9257-18C>A variant involves the alteration of a non-conserved intronic nucleotide. One in silico tool predicts a benign outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. This variant is absent in 106186 control chromosomes. This variant has been reported in two BrC patients without strong evidence for causality. In addition, one clinical diagnostic laboratory classified this variant as likely benign, without evidence to independently evaluate. Chen_2006 showed no change on mRNA was detected and this variant was classified as a benign polymorphism. Taken together, this variant is classified as likely benign until more evidence becomes available.
Breast Cancer Information Core (BIC) (BRCA2) RCV000114079 SCV000147588 uncertain significance Breast-ovarian cancer, familial 2 no assertion criteria provided clinical testing
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000496341 SCV000587993 uncertain significance not specified 2014-01-31 no assertion criteria provided research

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