ClinVar Miner

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

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Total submissions: 11
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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 This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Invitae RCV001514138 SCV001721893 benign Alpha thalassemia-X-linked intellectual disability syndrome 2020-12-08 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV001514138 SCV001775064 benign Alpha thalassemia-X-linked intellectual disability syndrome 2021-07-14 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV001553949 SCV001775065 benign X-linked intellectual disability-hypotonic face syndrome 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV000710717 SCV001844795 benign not provided 2015-03-03 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.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000078959 SCV001742005 benign not specified no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV000078959 SCV001957462 benign not specified no assertion criteria provided clinical testing

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