ClinVar Miner

Submissions for variant NM_000553.6(WRN):c.1383G>A (p.Thr461=)

dbSNP: rs542602723
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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 RCV000466908 SCV000554389 likely benign Werner syndrome 2025-01-06 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001821302 SCV002066312 likely benign not specified 2021-10-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003902657 SCV004720715 likely benign WRN-related disorder 2019-06-11 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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