ClinVar Miner

Submissions for variant NM_000489.6(ATRX):c.2692G>C (p.Asp898His)

gnomAD frequency: 0.00001  dbSNP: rs781903868
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001474706 SCV001678882 likely benign Alpha thalassemia-X-linked intellectual disability syndrome 2024-10-31 criteria provided, single submitter clinical testing
GeneDx RCV001751770 SCV002006073 uncertain significance not provided 2019-04-29 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 14592816)
Genetic Services Laboratory, University of Chicago RCV001820171 SCV002068334 uncertain significance not specified 2018-02-09 criteria provided, single submitter clinical testing

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