ClinVar Miner

Submissions for variant NM_173560.4(RFX6):c.2039C>A (p.Thr680Lys)

gnomAD frequency: 0.00111  dbSNP: rs146081967
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000192440 SCV000248719 uncertain significance not specified 2013-12-27 criteria provided, single submitter clinical testing
Personalized Diabetes Medicine Program, University of Maryland School of Medicine RCV000445479 SCV000537029 likely benign Monogenic diabetes 2016-09-09 criteria provided, single submitter research ACMG Criteria: PP3, BP4, BP5
Labcorp Genetics (formerly Invitae), Labcorp RCV001795312 SCV002405827 benign not provided 2023-09-04 criteria provided, single submitter clinical testing
GeneDx RCV001795312 SCV002575804 uncertain significance not provided 2022-03-23 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001795312 SCV002037086 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001795312 SCV002037741 likely benign not provided no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003907704 SCV004722870 likely benign RFX6-related disorder 2019-04-01 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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