ClinVar Miner

Submissions for variant NM_000834.5(GRIN2B):c.2216T>G (p.Met739Arg)

dbSNP: rs1555103652
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000626714 SCV000747417 likely pathogenic Craniosynostosis syndrome; Seizure; Fetal growth restriction; Atypical behavior; Self-injurious behavior; Scoliosis; Abnormal facial shape; Absent speech; Microcephaly; Difficulty walking; Intellectual disability, severe 2017-01-01 criteria provided, single submitter clinical testing

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