ClinVar Miner

Submissions for variant NM_000318.3(PEX2):c.209A>G (p.Tyr70Cys)

gnomAD frequency: 0.00239  dbSNP: rs35689779
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000382602 SCV000333766 benign not specified 2015-08-31 criteria provided, single submitter clinical testing
GeneDx RCV000514881 SCV000574300 uncertain significance not provided 2022-07-27 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000514881 SCV000610759 uncertain significance not provided 2017-07-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001086854 SCV001119960 likely benign Peroxisome biogenesis disorder 5A (Zellweger) 2025-02-03 criteria provided, single submitter clinical testing
Baylor Genetics RCV001086854 SCV001524666 uncertain significance Peroxisome biogenesis disorder 5A (Zellweger) 2020-06-03 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Pars Genome Lab RCV001086854 SCV001736836 uncertain significance Peroxisome biogenesis disorder 5A (Zellweger) 2021-05-18 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001086854 SCV001806115 uncertain significance Peroxisome biogenesis disorder 5A (Zellweger) 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001578804 SCV001806116 uncertain significance Peroxisome biogenesis disorder 5B 2021-07-14 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000514881 SCV004224194 uncertain significance not provided 2022-12-15 criteria provided, single submitter clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000514881 SCV001958084 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000514881 SCV001971310 uncertain significance not provided no assertion criteria provided clinical testing

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