ClinVar Miner

Submissions for variant NM_000489.6(ATRX):c.7439G>A (p.Arg2480Lys)

gnomAD frequency: 0.00004  dbSNP: rs369871569
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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 RCV001279979 SCV001624909 likely benign Alpha thalassemia-X-linked intellectual disability syndrome 2024-12-08 criteria provided, single submitter clinical testing
GeneDx RCV001776168 SCV002013138 uncertain significance not provided 2019-11-13 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; Has not been previously published as pathogenic or benign to our knowledge
Natera, Inc. RCV001279979 SCV001467120 uncertain significance Alpha thalassemia-X-linked intellectual disability syndrome 2020-09-11 no assertion criteria provided clinical testing

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