ClinVar Miner

Submissions for variant NM_007327.4(GRIN1):c.1664T>C (p.Met555Thr)

dbSNP: rs2131297403
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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 RCV002226577 SCV002505539 likely pathogenic Intellectual disability, autosomal dominant 8 2022-03-10 criteria provided, single submitter clinical testing

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