ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.4074G>A (p.Glu1358=)

dbSNP: rs80356846
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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) RCV000112238 SCV000578140 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/).
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003387746 SCV004099678 likely benign not specified 2023-09-09 criteria provided, single submitter clinical testing
Invitae RCV003644886 SCV004517542 likely benign Hereditary breast ovarian cancer syndrome 2022-11-12 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000112238 SCV000144952 benign Breast-ovarian cancer, familial, susceptibility to, 1 2000-01-01 no assertion criteria provided clinical testing
BRCAlab, Lund University RCV000112238 SCV004244009 likely benign Breast-ovarian cancer, familial, susceptibility to, 1 2020-03-02 no assertion criteria provided clinical testing

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