ClinVar Miner

Submissions for variant NM_014284.3(NCDN):c.1955C>T (p.Pro652Leu)

dbSNP: rs762580458
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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 RCV001391341 SCV001443684 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, PP3
OMIM RCV001526831 SCV001737503 pathogenic Neurodevelopmental disorder with infantile epileptic spasms 2021-06-16 no assertion criteria provided literature only

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