ClinVar Miner

Submissions for variant NM_000489.6(ATRX):c.6793G>A (p.Glu2265Lys)

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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 Hospital of Duesseldorf RCV003444076 SCV004171136 likely pathogenic Alpha thalassemia-X-linked intellectual disability syndrome criteria provided, single submitter not provided

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