ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.3144T>C (p.Gly1048=) (rs80356837)

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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) RCV000112010 SCV000578074 likely benign Breast-ovarian cancer, familial 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;
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001284543 SCV001470385 likely benign not provided 2020-03-13 criteria provided, single submitter clinical testing
Invitae RCV001501367 SCV001706175 likely benign Hereditary breast and ovarian cancer syndrome 2020-07-09 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000112010 SCV000144650 uncertain significance Breast-ovarian cancer, familial 1 2000-01-01 no assertion criteria provided clinical testing

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