ClinVar Miner

Submissions for variant NM_181672.3(OGT):c.762G>T (p.Leu254Phe)

dbSNP: rs1131692155
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000492058 SCV000580650 pathogenic Intellectual disability, X-linked 106 2021-08-19 no assertion criteria provided literature only

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