ClinVar Miner

Submissions for variant NM_007118.4(TRIO):c.1863C>G (p.Tyr621Ter)

dbSNP: rs140745100
Minimum review status: Collection method:
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV002274470 SCV002559197 likely pathogenic Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome criteria provided, single submitter clinical testing

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