ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.2860C>T (p.Leu954=)

gnomAD frequency: 0.00001  dbSNP: rs730881452
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Total submissions: 7
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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) RCV000494856 SCV000578114 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/).
GeneDx RCV000159878 SCV000209947 benign not specified 2014-10-03 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV001087537 SCV000635871 likely benign Hereditary breast ovarian cancer syndrome 2023-12-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV000572468 SCV000660970 likely benign Hereditary cancer-predisposing syndrome 2017-03-09 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.
Color Diagnostics, LLC DBA Color Health RCV000572468 SCV000903580 likely benign Hereditary cancer-predisposing syndrome 2018-05-22 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000554871 SCV001133538 likely benign not provided 2019-01-28 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000159878 SCV001362919 likely benign not specified 2019-10-13 criteria provided, single submitter clinical testing

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