ClinVar Miner

Submissions for variant NM_000489.6(ATRX):c.1438A>G (p.Thr480Ala)

gnomAD frequency: 0.00004  dbSNP: rs587780284
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000116460 SCV000150387 uncertain significance not provided 2013-06-04 criteria provided, single submitter clinical testing
GeneDx RCV000116460 SCV000730084 likely benign not provided 2020-06-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001274220 SCV002407514 benign Alpha thalassemia-X-linked intellectual disability syndrome 2023-09-28 criteria provided, single submitter clinical testing
Natera, Inc. RCV001274220 SCV001458093 uncertain significance Alpha thalassemia-X-linked intellectual disability syndrome 2020-01-24 no assertion criteria provided clinical testing

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