ClinVar Miner

Submissions for variant NM_001318852.2(MAPK8IP3):c.3461C>G (p.Ala1154Gly)

dbSNP: rs372037148
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001196990 SCV001367625 uncertain significance Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA 2020-02-18 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: BP4.

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