ClinVar Miner

Submissions for variant NM_000489.5(ATRX):c.1168C>T (p.Arg390Cys) (rs150484080)

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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 RCV000718589 SCV000849453 likely benign History of neurodevelopmental disorder 2017-05-15 criteria provided, single submitter clinical testing Insufficient or conflicting evidence;In silico models in agreement (benign);Sub-population frequency in support of benign classification (not ava blue, manual h-w);Subpopulation frequency in support of benign classification
Invitae RCV000875902 SCV001018387 likely benign Alpha thalassemia-X-linked intellectual disability syndrome 2019-12-31 criteria provided, single submitter clinical testing

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