ClinVar Miner

Submissions for variant NM_000489.5(ATRX):c.2720G>A (p.Arg907Gln) (rs143413618)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000545834 SCV000639876 benign Alpha thalassemia-X-linked intellectual disability syndrome 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000716793 SCV000847636 likely benign History of neurodevelopmental disorder 2016-08-23 criteria provided, single submitter clinical testing In silico models in agreement (benign);Subpopulation frequency in support of benign classification

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