ClinVar Miner

Submissions for variant NM_000553.6(WRN):c.720T>G (p.Asn240Lys)

gnomAD frequency: 0.00085  dbSNP: rs148229804
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000122305 SCV000232079 likely benign not specified 2015-04-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000533817 SCV000629741 benign Werner syndrome 2024-01-22 criteria provided, single submitter clinical testing
Baylor Genetics RCV000533817 SCV002030211 uncertain significance Werner syndrome 2021-01-26 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
ITMI RCV000122305 SCV000086534 not provided not specified 2013-09-19 no assertion provided reference population
PreventionGenetics, part of Exact Sciences RCV003935170 SCV004750062 likely benign WRN-related disorder 2019-04-08 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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