ClinVar Miner

Submissions for variant NM_000489.5(ATRX):c.4659T>C (p.His1553=) (rs25641)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000715096 SCV000845922 benign History of neurodevelopmental disorder 2015-11-09 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000078964 SCV000110829 benign not specified 2013-05-28 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000078964 SCV000150399 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Invitae RCV000477122 SCV000561552 benign ATR-X syndrome 2017-08-12 criteria provided, single submitter clinical testing
PreventionGenetics RCV000078964 SCV000304467 benign not specified criteria provided, single submitter clinical testing

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