ClinVar Miner

Submissions for variant NM_000489.5(ATRX):c.2785= (p.Glu929=) (rs3088074)

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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 RCV000078959 SCV000110824 benign not specified 2015-09-25 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000710717 SCV000841014 benign not provided 2018-05-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715048 SCV000845872 benign History of neurodevelopmental disorder 2015-06-25 criteria provided, single submitter clinical testing
ITMI RCV000078959 SCV000084329 not provided not specified 2013-09-19 no assertion provided reference population
Genetic Services Laboratory, University of Chicago RCV000078959 SCV000150395 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.

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