ClinVar Miner

Submissions for variant NM_000553.6(WRN):c.75A>G (p.Arg25=)

gnomAD frequency: 0.00006  dbSNP: rs150524008
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000552344 SCV000629745 likely benign Werner syndrome 2024-01-25 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003316688 SCV004016242 likely benign Wiskott-Aldrich syndrome 2023-07-07 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003437241 SCV004164581 likely benign not provided 2023-12-01 criteria provided, single submitter clinical testing WRN: BP4, BP7

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