ClinVar Miner

Submissions for variant NM_000489.6(ATRX):c.667T>C (p.Cys223Arg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein RCV003989458 SCV004808332 likely pathogenic Intellectual disability-hypotonic facies syndrome, X-linked, 1 2023-03-01 no assertion criteria provided clinical testing

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