ClinVar Miner

Submissions for variant NM_000553.6(WRN):c.1378G>A (p.Asp460Asn)

gnomAD frequency: 0.00002  dbSNP: rs556958354
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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 RCV000551303 SCV000629613 benign Werner syndrome 2024-01-30 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000551303 SCV003823793 uncertain significance Werner syndrome 2020-10-28 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003316686 SCV004016256 likely benign Wiskott-Aldrich syndrome 2023-07-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003942745 SCV004760864 likely benign WRN-related disorder 2022-05-06 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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