ClinVar Miner

Submissions for variant NM_007327.4(GRIN1):c.1976G>A (p.Arg659Gln)

dbSNP: rs2131299400
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Total submissions: 3
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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 RCV003493868 SCV004242395 likely pathogenic Intellectual disability, autosomal dominant 8 2023-12-11 criteria provided, single submitter clinical testing Criteria applied: PS4_MOD,PM1,PM5,PM2_SUP,PP2
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001702142 SCV001927186 likely pathogenic not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001702142 SCV001954645 likely pathogenic not provided no assertion criteria provided clinical testing

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