ClinVar Miner

Submissions for variant NM_004859.4(CLTC):c.3493C>T (p.Arg1165Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV003140566 SCV003807396 likely pathogenic Intellectual disability, autosomal dominant 56 2022-12-01 criteria provided, single submitter clinical testing ACMG classification criteria: PVS1 very strong, PM2 moderated

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