ClinVar Miner

Submissions for variant NM_000829.4(GRIA4):c.1928C>G (p.Ala643Gly) (rs1555050171)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Human Genetics Institute Leipzig, Universitätsklinikum Leipzig RCV000627680 SCV000611123 likely pathogenic Intellectual functioning disability no assertion criteria provided clinical testing
OMIM RCV000578485 SCV000680482 pathogenic NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT SEIZURES AND GAIT ABNORMALITIES 2018-02-07 no assertion criteria provided literature only

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