ClinVar Miner

Submissions for variant NM_000553.6(WRN):c.4251C>T (p.Thr1417=)

gnomAD frequency: 0.00002  dbSNP: rs772748725
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000862512 SCV001003026 likely benign Werner syndrome 2023-09-07 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003438506 SCV004164601 likely benign not provided 2022-04-01 criteria provided, single submitter clinical testing WRN: BP4, BP7

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