ClinVar Miner

Submissions for variant NM_000489.6(ATRX):c.798C>T (p.Tyr266=)

gnomAD frequency: 0.00009  dbSNP: rs376341197
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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 RCV000640848 SCV000762449 benign Alpha thalassemia-X-linked intellectual disability syndrome 2024-10-17 criteria provided, single submitter clinical testing
GeneDx RCV001591428 SCV001817077 likely benign not provided 2020-04-13 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004544852 SCV004784582 likely benign ATRX-related disorder 2021-02-09 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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