ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.3500_3501del (p.Ile1167fs) (rs80359387)

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Total submissions: 7
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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) RCV000113186 SCV000300642 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 RCV000221119 SCV000277539 pathogenic Hereditary cancer-predisposing syndrome 2015-08-03 criteria provided, single submitter clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000113186 SCV000326876 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
Counsyl RCV000113186 SCV000677675 pathogenic Breast-ovarian cancer, familial 2 2017-04-11 criteria provided, single submitter clinical testing
Color RCV000221119 SCV000906899 pathogenic Hereditary cancer-predisposing syndrome 2017-03-16 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000985503 SCV001133759 pathogenic not provided 2019-01-17 criteria provided, single submitter clinical testing The variant results in a shift of the reading frame, and is therefore predicted to result in the loss of a functional protein. Found in at least one symptomatic patient, and found in general population data that is consistent with pathogenicity.
Breast Cancer Information Core (BIC) (BRCA2) RCV000113186 SCV000146245 pathogenic Breast-ovarian cancer, familial 2 2004-02-20 no assertion criteria provided clinical testing

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