ClinVar Miner

Submissions for variant NM_000489.6(ATRX):c.5786+7C>T

gnomAD frequency: 0.00002  dbSNP: rs375234450
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001485052 SCV001689477 likely benign Alpha thalassemia-X-linked intellectual disability syndrome 2024-09-27 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004533853 SCV004710876 likely benign ATRX-related disorder 2023-02-16 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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