ClinVar Miner

Submissions for variant NM_173630.4(RTTN):c.2536G>A (p.Val846Ile)

gnomAD frequency: 0.00082  dbSNP: rs113536228
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000503214 SCV000596873 uncertain significance not specified 2016-01-05 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000727504 SCV000709256 uncertain significance not provided 2017-06-12 criteria provided, single submitter clinical testing
GeneDx RCV000727504 SCV001794552 uncertain significance not provided 2022-07-07 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
Labcorp Genetics (formerly Invitae), Labcorp RCV000727504 SCV002400533 likely benign not provided 2025-01-27 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003942651 SCV004764602 likely benign RTTN-related disorder 2023-03-24 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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