ClinVar Miner

Submissions for variant NM_001967.4(EIF4A2):c.517+1G>T

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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 RCV003494075 SCV004242459 likely pathogenic Neurodevelopmental disorder with hypotonia and speech delay, with or without seizures 2023-12-19 criteria provided, single submitter clinical testing Criteria applied: PVS1,PM2_SUP

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