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
Ambry Genetics RCV000716793 SCV000847636 likely benign History of neurodevelopmental disorder 2016-08-23 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign),Subpopulation frequency in support of benign classification
Invitae RCV000545834 SCV000639876 benign ATR-X syndrome 2017-07-19 criteria provided, single submitter clinical testing

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