ClinVar Miner

Submissions for variant NM_138690.3(GRIN3B):c.1811C>T (p.Thr604Met)

gnomAD frequency: 0.00001  dbSNP: rs765385702
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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, University of Leipzig Medical Center RCV001262994 SCV001441063 uncertain significance Neurodevelopmental disorder 2019-01-01 criteria provided, single submitter clinical testing This variant was identified as compound heterozygous.

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