ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.1341-1G>C

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003139516 SCV003824429 likely pathogenic Fanconi anemia complementation group J 2023-01-27 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV003336822 SCV004045171 likely pathogenic Familial cancer of breast 2023-06-01 criteria provided, single submitter clinical testing This variant is considered likely pathogenic. This variant occurs within a consensus splice junction and is predicted to result in abnormal mRNA splicing of either an out-of-frame exon or an in-frame exon necessary for protein stability and/or normal function.

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