ClinVar Miner

Submissions for variant NM_032436.4(CHAMP1):c.959dup (p.Pro320_Arg321insTer)

dbSNP: rs2139419839
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Area of Clinical and Molecular Genetics, Hospital Universitario Vall de Hebron RCV001729905 SCV001571201 pathogenic Intellectual disability, autosomal dominant 40 2021-04-13 criteria provided, single submitter clinical testing

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