ClinVar Miner

Submissions for variant NM_001083619.3(GRIA2):c.2188A>T (p.Asn730Tyr)

dbSNP: rs2530853195
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV003335831 SCV004045956 likely pathogenic Neurodevelopmental disorder with language impairment and behavioral abnormalities 2023-07-18 criteria provided, single submitter clinical testing

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