ClinVar Miner

Submissions for variant NM_000553.6(WRN):c.144A>G (p.Glu48=)

gnomAD frequency: 0.00133  dbSNP: rs145959045
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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 RCV000232487 SCV000285518 benign Werner syndrome 2024-01-31 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001818572 SCV002071488 likely benign not specified 2021-05-26 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000232487 SCV002514960 benign Werner syndrome 2021-12-05 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003316244 SCV004016249 benign Wiskott-Aldrich syndrome 2023-07-07 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004705053 SCV005222909 likely benign not provided criteria provided, single submitter not provided
CeGaT Center for Human Genetics Tuebingen RCV004705053 SCV005331296 likely benign not provided 2024-08-01 criteria provided, single submitter clinical testing WRN: BP4, BS2

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