ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.2077_2078insTA (p.Asp693fs) (rs80357595)

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Total submissions: 4
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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) RCV000111760 SCV000299694 pathogenic Breast-ovarian cancer, familial 1 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000257894 SCV000219213 pathogenic Hereditary breast and ovarian cancer syndrome 2016-11-03 criteria provided, single submitter clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000111760 SCV000325226 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000111760 SCV000144290 pathogenic Breast-ovarian cancer, familial 1 no assertion criteria provided clinical testing

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