ClinVar Miner

Submissions for variant NM_138459.5(NUS1):c.415+2_415+3insCGTAGGT

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MVZ Medizinische Genetik Mainz RCV004555347 SCV005044320 likely pathogenic Intellectual disability, autosomal dominant 55, with seizures 2023-08-30 criteria provided, single submitter clinical testing ACMG Criteria: PVS1_STR,PS2,PM2_SUP

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