ClinVar Miner

Submissions for variant NM_000489.5(ATRX):c.3395T>C (p.Ile1132Thr) (rs587780285)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000116461 SCV000150389 uncertain significance not provided 2013-08-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV000719094 SCV000849958 benign History of neurodevelopmental disorder 2019-10-26 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance;In silico models in agreement (benign)
Invitae RCV001083597 SCV001007561 benign Alpha thalassemia-X-linked intellectual disability syndrome 2020-12-08 criteria provided, single submitter clinical testing

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