ClinVar Miner

Submissions for variant NM_003590.5(CUL3):c.562C>T (p.Gln188Ter)

dbSNP: rs2106221030
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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 RCV001780015 SCV002016257 likely pathogenic Neurodevelopmental disorder 2021-06-15 criteria provided, single submitter clinical testing

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