ClinVar Miner

Submissions for variant NM_000553.6(WRN):c.107G>A (p.Arg36Gln)

gnomAD frequency: 0.00091  dbSNP: rs34084741
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001085837 SCV000285509 likely benign Werner syndrome 2024-01-16 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000733018 SCV000861030 uncertain significance not provided 2018-05-17 criteria provided, single submitter clinical testing
GeneDx RCV000733018 SCV001791100 likely benign not provided 2020-10-08 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 24728327)
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003315785 SCV004016244 likely benign Wiskott-Aldrich syndrome 2023-07-07 criteria provided, single submitter clinical testing
ITMI RCV000122289 SCV000086516 not provided not specified 2013-09-19 no assertion provided reference population
PreventionGenetics, part of Exact Sciences RCV003925216 SCV004744847 likely benign WRN-related disorder 2022-05-26 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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