ClinVar Miner

Submissions for variant NM_000553.6(WRN):c.3138+7G>A

gnomAD frequency: 0.46283  dbSNP: rs2737335
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000118873 SCV000305350 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000316826 SCV000473344 benign Werner syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000316826 SCV000473346 benign Werner syndrome 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000316826 SCV001717326 benign Werner syndrome 2025-02-04 criteria provided, single submitter clinical testing
GeneDx RCV001636677 SCV001851647 benign not provided 2018-06-29 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000316826 SCV002514988 benign Werner syndrome 2021-12-05 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003315688 SCV004016227 benign Wiskott-Aldrich syndrome 2023-07-07 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001636677 SCV005264782 benign not provided criteria provided, single submitter not provided
Genetic Services Laboratory, University of Chicago RCV000118873 SCV000153542 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000118873 SCV001740436 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000118873 SCV001953628 benign not specified no assertion criteria provided clinical testing

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