ClinVar Miner

Submissions for variant NM_001081550.2(THOC2):c.34T>C (p.Trp12Arg)

dbSNP: rs2148016775
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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 RCV002274474 SCV002559205 likely pathogenic X-linked intellectual disability-short stature-overweight syndrome criteria provided, single submitter clinical testing

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