ClinVar Miner

Submissions for variant NM_000489.6(ATRX):c.2360G>C (p.Gly787Ala)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV003224716 SCV003920315 uncertain significance Acquired hemoglobin H disease; Alpha thalassemia-X-linked intellectual disability syndrome; Intellectual disability-hypotonic facies syndrome, X-linked, 1 2022-09-01 criteria provided, single submitter clinical testing This variant has not been reported in the literature but is present in the Genome Aggregation Database as 1 hemizygote (Highest reported MAF 0.001% (1/81226) (https://gnomad.broadinstitute.org/variant/X-76938388-C-G?dataset=gnomad_r2_1). Evolutionary conservation and computational predictive tools for this variant are unclear. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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