ClinVar Miner

Submissions for variant NM_000489.6(ATRX):c.6122G>A (p.Ser2041Asn)

dbSNP: rs1060499658
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center of Genomic medicine, Geneva, University Hospital of Geneva RCV000449558 SCV000537716 pathogenic Alpha thalassemia-X-linked intellectual disability syndrome 2014-03-24 criteria provided, single submitter clinical testing

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