ClinVar Miner

Submissions for variant NM_001318852.2(MAPK8IP3):c.2221T>C (p.Cys741Arg)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV003225788 SCV003807179 uncertain significance Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA 2022-09-28 criteria provided, single submitter clinical testing ACMG classification criteria: PM2 moderated, BP4 supporting
3billion, Medical Genetics RCV003225788 SCV005328557 likely benign Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA 2024-09-20 criteria provided, single submitter clinical testing The variant was identified in at least one patient who was diagnosed with a different variant in another gene and showed no symptoms related to the gene containing the variant in question.

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