ClinVar Miner

Submissions for variant NM_000829.4(GRIA4):c.2090G>C (p.Arg697Pro)

dbSNP: rs765556214
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV000578476 SCV001428967 likely pathogenic Neurodevelopmental disorder with or without seizures and gait abnormalities 2023-05-10 criteria provided, single submitter clinical testing Criteria applied: PS2, PM1, PM2_SUP
Institute of Human Genetics, University of Leipzig Medical Center RCV000627682 SCV000611125 likely pathogenic Intellectual disability no assertion criteria provided research
OMIM RCV000578476 SCV000680484 pathogenic Neurodevelopmental disorder with or without seizures and gait abnormalities 2018-02-07 no assertion criteria provided literature only

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