ClinVar Miner

Submissions for variant NM_000489.6(ATRX):c.1257G>A (p.Ala419=)

gnomAD frequency: 0.00002  dbSNP: rs185550133
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000865802 SCV001006823 benign Alpha thalassemia-X-linked intellectual disability syndrome 2023-11-28 criteria provided, single submitter clinical testing
GeneDx RCV002285422 SCV002575282 likely benign not provided 2020-05-18 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Natera, Inc. RCV000865802 SCV002087366 likely benign Alpha thalassemia-X-linked intellectual disability syndrome 2020-02-01 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004540191 SCV004763595 likely benign ATRX-related disorder 2021-02-23 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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