ClinVar Miner

Submissions for variant NM_000489.5(ATRX):c.228G>A (p.Ser76=) (rs5959371)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000715565 SCV000846394 benign History of neurodevelopmental disorder 2014-12-13 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 RCV000116465 SCV000230103 benign not specified 2014-06-19 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000116465 SCV000150393 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 RCV000538540 SCV000639870 benign ATR-X syndrome 2018-01-10 criteria provided, single submitter clinical testing

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