ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.2934del (p.Arg979fs) (rs80357741)

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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) RCV000111969 SCV000299857 pathogenic Breast-ovarian cancer, familial 1 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Ambry Genetics RCV000214786 SCV000277185 pathogenic Hereditary cancer-predisposing syndrome 2015-07-13 criteria provided, single submitter clinical testing
GeneKor MSA RCV000585695 SCV000693523 pathogenic Hereditary breast and ovarian cancer syndrome 2018-08-01 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000111969 SCV000144587 pathogenic Breast-ovarian cancer, familial 1 2000-06-12 no assertion criteria provided clinical testing

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