ClinVar Miner

Submissions for variant NM_014284.3(NCDN):c.1433G>A (p.Arg478Gln)

dbSNP: rs1305972382
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Research Group Niklas Dahl, Uppsala University RCV001391339 SCV001443682 likely pathogenic Cerebellar ataxia; Intellectual disability; Neurodevelopmental delay 2020-11-13 criteria provided, single submitter research We report on NCDN missense variants in six affected individuals from four families with variable degrees of developmental delay, intellectual disability (ID) and seizures. ACMG: Pathogenic 9 PS2, PS3, PM2, PP
OMIM RCV001526832 SCV001737504 uncertain significance not provided 2022-03-15 no assertion criteria provided literature only

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