ClinVar Miner

Submissions for variant NM_000489.5(ATRX):c.1633C>G (p.Gln545Glu) (rs35738915)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000078956 SCV000110821 benign not specified 2012-09-26 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000078956 SCV000150388 benign not specified 2017-07-07 criteria provided, single submitter clinical testing
Invitae RCV000542709 SCV000639864 benign Alpha thalassemia-X-linked intellectual disability syndrome 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715797 SCV000846628 benign History of neurodevelopmental disorder 2017-09-14 criteria provided, single submitter clinical testing Subpopulation frequency in support of benign classification;General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
ITMI RCV000078956 SCV000084325 not provided not specified 2013-09-19 no assertion provided reference population

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