ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.2079C>T (p.Asp693=)

dbSNP: rs80356835
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Total submissions: 2
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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) RCV000111761 SCV000578054 likely benign Breast-ovarian cancer, familial, susceptibility to, 1 2017-06-29 reviewed by expert panel curation Synonymous substitution variant, with low bioinformatic likelihood to result in a splicing aberration (Splicing prior probability 0.02; http://priors.hci.utah.edu/PRIORS/).
Breast Cancer Information Core (BIC) (BRCA1) RCV000111761 SCV000144291 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 1 2000-01-01 no assertion criteria provided clinical testing

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