ClinVar Miner

Submissions for variant NM_000489.6(ATRX):c.6742A>G (p.Ile2248Val)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Lab, CHRU Brest RCV003883279 SCV004697624 uncertain significance Acquired hemoglobin H disease; Alpha thalassemia-X-linked intellectual disability syndrome; Intellectual disability-hypotonic facies syndrome, X-linked, 1 criteria provided, single submitter clinical testing

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