ClinVar Miner

Submissions for variant NM_000829.4(GRIA4):c.1931C>T (p.Ala644Val)

dbSNP: rs1555050174
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Total submissions: 2
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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 RCV000627681 SCV000611124 likely pathogenic Intellectual disability no assertion criteria provided research
OMIM RCV000578489 SCV000680483 pathogenic Neurodevelopmental disorder with or without seizures and gait abnormalities 2018-02-07 no assertion criteria provided literature only

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