ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.-9G>C

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003477142 SCV004220738 uncertain significance not provided 2023-08-22 criteria provided, single submitter clinical testing To the best of our knowledge, this variant has not been reported in individuals with BRIP1-related conditions in the published literature. The frequency of this variant in the general population, 0.0000066 (1/152124 chromosomes (Genome Aggregation Database, http://gnomad.broadinstitute.org)), is uninformative in the assessment of its pathogenicity. Analysis of this variant using software algorithms for the prediction of the effect of nucleotide changes on BRIP1 mRNA splicing yielded inconclusive findings . Based on the available information, we are unable to determine the clinical significance of this variant.
Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C. RCV003482171 SCV004228173 likely benign Hereditary cancer-predisposing syndrome 2023-10-31 criteria provided, single submitter clinical testing

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