ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.7762del (p.Ile2588fs) (rs80359679)

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Total submissions: 6
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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) RCV000113814 SCV000301202 pathogenic Breast-ovarian cancer, familial 2 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Ambry Genetics RCV000509870 SCV000608142 pathogenic Hereditary cancer-predisposing syndrome 2018-04-18 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
CSER_CC_NCGL; University of Washington Medical Center RCV000045307 SCV000700127 pathogenic Hereditary breast and ovarian cancer syndrome 2016-10-01 criteria provided, single submitter research Found in a male patient having exome sequencing for an unrelated indication with a family history of breast and pancreatic cancer. This interpretation considers GERP score and allele frequency data, in addition to published reports of the variant in the literature, available at the time of review.
Invitae RCV000045307 SCV000073320 pathogenic Hereditary breast and ovarian cancer syndrome 2014-06-11 no assertion criteria provided clinical testing The interpretation for this sequence variant was made by Invitae based on the ACMG guidelines. A more detailed explanation of the interpretation for this specific variant is forthcoming. This ClinVar entry will be updated at that time.
Breast Cancer Information Core (BIC) (BRCA2) RCV000113814 SCV000147176 pathogenic Breast-ovarian cancer, familial 2 2000-06-12 no assertion criteria provided clinical testing
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000045307 SCV000587907 pathogenic Hereditary breast and ovarian cancer syndrome 2014-01-31 no assertion criteria provided research

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