ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.3489T>C (p.Thr1163=)

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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 RCV003477101 SCV004219358 uncertain significance not provided 2022-09-30 criteria provided, single submitter clinical testing This variant has not been reported in the published literature. It also has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org). Analysis of this variant using software algorithms for the prediction of the effect of nucleotide changes on splicing yielded predictions that this variant does not affect BRCA1 mRNA splicing . Based on the available information, we are unable to determine the clinical significance of this variant.
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV004596589 SCV005090345 likely benign not specified 2025-03-04 criteria provided, single submitter clinical testing

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