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
Ambry Genetics RCV000715797 SCV000846628 benign History of neurodevelopmental disorder 2017-09-14 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: 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
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 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.
ITMI RCV000078956 SCV000084325 not provided not specified 2013-09-19 no assertion provided reference population
Invitae RCV000542709 SCV000639864 benign ATR-X syndrome 2017-10-17 criteria provided, single submitter clinical testing

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