ClinVar Miner

Submissions for variant NM_175914.5(HNF4A):c.225-3C>A

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Dept of Medical Genetics, AP-HP Sorbonne University, Pitié-Salpêtrière hospital RCV003330068 SCV004037071 likely pathogenic Maturity onset diabetes mellitus in young 2022-11-01 criteria provided, single submitter clinical testing minigene showed effect on RNA splicing: retention of the last 17 bp of intron 2 (r.224_225ins10, p.Arg75Serfs*6). PS3 PM2

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