ClinVar Miner

Submissions for variant NM_000489.6(ATRX):c.672G>A (p.Ala224=)

gnomAD frequency: 0.00001  dbSNP: rs782223625
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001519107 SCV001727916 benign Alpha thalassemia-X-linked intellectual disability syndrome 2023-09-29 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001821831 SCV002068012 likely benign not specified 2020-05-04 criteria provided, single submitter clinical testing
Natera, Inc. RCV001519107 SCV002089017 likely benign Alpha thalassemia-X-linked intellectual disability syndrome 2021-07-29 no assertion criteria provided clinical testing

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