ClinVar Miner

Submissions for variant NM_001008537.3(NEXMIF):c.3386T>G (p.Phe1129Cys)

gnomAD frequency: 0.00006  dbSNP: rs202207238
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000500688 SCV000595353 uncertain significance not specified 2016-03-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001519373 SCV001728235 benign not provided 2024-11-13 criteria provided, single submitter clinical testing
GeneDx RCV001519373 SCV001872676 likely benign not provided 2021-02-22 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; This variant is associated with the following publications: (PMID: 27358180)
PreventionGenetics, part of Exact Sciences RCV003915378 SCV004732428 likely benign NEXMIF-related disorder 2021-08-25 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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