ClinVar Miner

Submissions for variant NM_000553.6(WRN):c.3132G>A (p.Thr1044=)

gnomAD frequency: 0.00006  dbSNP: rs775952540
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000547259 SCV000629673 likely benign Werner syndrome 2024-01-25 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003316687 SCV004016251 likely benign Wiskott-Aldrich syndrome 2023-07-07 criteria provided, single submitter clinical testing

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