ClinVar Miner

Submissions for variant NM_001386298.1(CIC):c.1449G>C (p.Lys483Asn)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes RCV003389154 SCV004101148 uncertain significance Neurodevelopmental disorder 2023-06-20 criteria provided, single submitter clinical testing

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