ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.2188_2201del (p.Glu730fs) (rs273898681)

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Total submissions: 5
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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) RCV000111784 SCV000282274 pathogenic Breast-ovarian cancer, familial 1 2016-04-22 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 RCV000111784 SCV000325277 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
Counsyl RCV000111784 SCV000785409 likely pathogenic Breast-ovarian cancer, familial 1 2017-07-25 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000985382 SCV001133517 pathogenic not provided 2018-11-16 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 not found in general population data.
Breast Cancer Information Core (BIC) (BRCA1) RCV000111784 SCV000144326 pathogenic Breast-ovarian cancer, familial 1 2005-12-20 no assertion criteria provided clinical testing

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