ClinVar Miner

Submissions for variant NM_000489.6(ATRX):c.2923G>A (p.Asp975Asn)

gnomAD frequency: 0.00049  dbSNP: rs200709847
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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 RCV000863603 SCV001004295 benign Alpha thalassemia-X-linked intellectual disability syndrome 2025-01-14 criteria provided, single submitter clinical testing
Natera, Inc. RCV000863603 SCV002087314 likely benign Alpha thalassemia-X-linked intellectual disability syndrome 2020-02-25 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004540174 SCV004765064 likely benign ATRX-related disorder 2023-12-26 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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