ClinVar Miner

Submissions for variant NM_001083619.3(GRIA2):c.699C>A (p.Tyr233Ter)

dbSNP: rs1734386587
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli RCV002287603 SCV002577698 pathogenic Neurodevelopmental disorder with language impairment and behavioral abnormalities 2022-10-04 criteria provided, single submitter clinical testing PVS1;PM2_supporting;PM6

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