ClinVar Miner

Submissions for variant NM_000489.5(ATRX):c.6869A>G (p.Asn2290Ser) (rs368498507)

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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 RCV000719477 SCV000850344 likely benign History of neurodevelopmental disorder 2016-12-12 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Invitae RCV000549894 SCV000639902 benign ATR-X syndrome 2017-07-16 criteria provided, single submitter clinical testing

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