ClinVar Miner

Submissions for variant NM_000844.4(GRM7):c.1972C>T (p.Arg658Trp)

dbSNP: rs1114167300
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000490963 SCV000282220 likely pathogenic Global developmental delay; Seizure; Intellectual disability; CNS hypomyelination; Brain atrophy; Hypotonia 2016-01-10 no assertion criteria provided research
OMIM RCV001248849 SCV001422471 pathogenic Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities 2023-09-11 no assertion criteria provided literature only

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