ClinVar Miner

Submissions for variant NM_005097.4(LGI1):c.187del (p.Arg63fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV003388897 SCV004100795 likely pathogenic Epilepsy, familial temporal lobe, 1 2023-10-26 criteria provided, single submitter clinical testing Criteria applied: PVS1,PM2_SUP

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