ClinVar Miner

Submissions for variant NM_005998.5(CCT3):c.1552C>T (p.Arg518Ter)

dbSNP: rs1663968731
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001196452 SCV001367060 uncertain significance See cases 2020-04-02 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PM2,PM6.
OMIM RCV004998716 SCV005619985 pathogenic NEURODEVELOPMENTAL DISORDER WITH SPEECH OR VISUAL IMPAIRMENT AND BRAIN HYPOMYELINATION 2025-01-10 no assertion criteria provided literature only

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