ClinVar Miner

Submissions for variant NM_000489.6(ATRX):c.399_400dup (p.Leu134fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Rehabilitation, Anhui Provincial Children's Hospital RCV003459814 SCV003935204 pathogenic Intellectual disability-hypotonic facies syndrome, X-linked, 1 no assertion criteria provided clinical testing

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