ClinVar Miner

Submissions for variant NM_007118.4(TRIO):c.298C>T (p.Arg100Ter)

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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 RCV002468852 SCV002765030 likely pathogenic Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome 2022-11-09 criteria provided, single submitter clinical testing _x000D_ Criteria applied: PVS1, PM2_SUP

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