ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.1173A>G (p.Glu391=)

dbSNP: rs1131692097
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Total submissions: 6
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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) RCV000494957 SCV000578160 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/).
Ambry Genetics RCV000569443 SCV000665116 likely benign Hereditary cancer-predisposing syndrome 2016-10-03 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000938370 SCV001133478 likely benign not provided 2018-11-12 criteria provided, single submitter clinical testing
Invitae RCV001437715 SCV001640576 likely benign Hereditary breast ovarian cancer syndrome 2022-12-24 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002469174 SCV002766349 likely benign not specified 2022-11-03 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000569443 SCV004361073 likely benign Hereditary cancer-predisposing syndrome 2022-03-22 criteria provided, single submitter clinical testing

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