ClinVar Miner

Submissions for variant NM_000489.6(ATRX):c.6871A>G (p.Ile2291Val)

gnomAD frequency: 0.00010  dbSNP: rs374244026
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000193153 SCV000246763 uncertain significance not specified 2015-05-08 criteria provided, single submitter clinical testing
Invitae RCV000862246 SCV001002725 benign Alpha thalassemia-X-linked intellectual disability syndrome 2024-01-18 criteria provided, single submitter clinical testing
GeneDx RCV001701703 SCV002012764 likely benign not provided 2020-12-07 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001701703 SCV001930592 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001701703 SCV001964338 likely benign not provided no assertion criteria provided clinical testing
Natera, Inc. RCV000862246 SCV002087259 likely benign Alpha thalassemia-X-linked intellectual disability syndrome 2019-10-28 no assertion criteria provided clinical testing

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