ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.1935+5G>A

dbSNP: rs1209289625
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000709544 SCV000839374 uncertain significance Fanconi anemia complementation group J 2018-07-02 criteria provided, single submitter clinical testing
GeneDx RCV004773122 SCV005383819 uncertain significance not provided 2023-12-22 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports a deleterious effect on splicing; Has not been previously published as pathogenic or benign to our knowledge

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