ClinVar Miner

Submissions for variant NM_007325.5(GRIA3):c.2447C>T (p.Thr816Ile)

dbSNP: rs1569443329
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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 RCV000679971 SCV000807405 uncertain significance Syndromic X-linked intellectual disability 94 2017-09-01 criteria provided, single submitter clinical testing Likely pathogenicity based on finding it once in our laboratory de novo in set of identical twins: 12-year-old females with intellectual disability, epilepsy, aggressive behavior

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