ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.3588A>G (p.Thr1196=)

gnomAD frequency: 0.00002  dbSNP: rs876658595
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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) RCV000495595 SCV000578371 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 RCV000219293 SCV000274063 likely benign Hereditary cancer-predisposing syndrome 2015-02-18 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.
Invitae RCV000529747 SCV000635905 likely benign Hereditary breast ovarian cancer syndrome 2022-04-17 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002282054 SCV002571966 likely benign not specified 2022-08-11 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003477720 SCV004219361 likely benign not provided 2023-05-08 criteria provided, single submitter clinical testing

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