ClinVar Miner

Submissions for variant NM_007327.4(GRIN1):c.1964T>A (p.Leu655Gln)

dbSNP: rs1564363923
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000679997 SCV000807434 uncertain significance Intellectual disability, autosomal dominant 8 2017-09-01 criteria provided, single submitter clinical testing Likely pathogenicity based on finding it once in our laboratory de novo in a 16-year-old male with intellectual disability, absent speech, hypotonia, seizures, ataxia, joint contractures, failure to thrive, nystagmus, cortical blindness, scoliosis, inguinal hernia, urinary retention, GERD

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