ClinVar Miner

Submissions for variant NM_001365999.1(SZT2):c.1858C>G (p.Leu620Val)

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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 RCV003448515 SCV004175948 uncertain significance Developmental and epileptic encephalopathy, 18 2023-11-08 criteria provided, single submitter clinical testing Criteria applied: PM2_SUP; Gnomad: The estimated probability that these variants occur in different haplotypes is 100%.

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