ClinVar Miner

Submissions for variant NM_000553.6(WRN):c.201A>G (p.Glu67=)

gnomAD frequency: 0.00003  dbSNP: rs764589321
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000699639 SCV000828359 likely benign Werner syndrome 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001771982 SCV002003757 uncertain significance not provided 2021-04-12 criteria provided, single submitter clinical testing In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge

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