ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.523A>G (p.Arg175Gly)

dbSNP: rs1925574557
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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 RCV001262858 SCV001440883 pathogenic Developmental and epileptic encephalopathy, 2 2019-01-01 criteria provided, single submitter clinical testing

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