ClinVar Miner

Submissions for variant NM_000489.6(ATRX):c.4659T>C (p.His1553=)

gnomAD frequency: 0.05840  dbSNP: rs25641
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000078964 SCV000110829 benign not specified 2013-05-28 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000078964 SCV000304467 benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000477122 SCV000561552 benign Alpha thalassemia-X-linked intellectual disability syndrome 2024-02-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002311564 SCV000845922 benign Inborn genetic diseases 2015-11-09 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, 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.
GeneDx RCV001650900 SCV001865156 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002504990 SCV002798081 benign Acquired hemoglobin H disease; Alpha thalassemia-X-linked intellectual disability syndrome; Intellectual disability-hypotonic facies syndrome, X-linked, 1 2022-02-15 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001650900 SCV005274728 benign not provided criteria provided, single submitter not provided
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.
Natera, Inc. RCV000477122 SCV001462650 benign Alpha thalassemia-X-linked intellectual disability syndrome 2020-09-16 no assertion criteria provided clinical testing

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