ClinVar Miner

Submissions for variant NM_000489.5(ATRX):c.846C>T (p.Ser282=) (rs148015780)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000192580 SCV000246765 likely benign not specified 2015-09-30 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000192580 SCV000340988 likely benign not specified 2016-04-19 criteria provided, single submitter clinical testing
Invitae RCV000534059 SCV000639904 benign Alpha thalassemia-X-linked intellectual disability syndrome 2020-12-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV000718304 SCV000849166 benign History of neurodevelopmental disorder 2017-03-09 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

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