ClinVar Miner

Submissions for variant NM_001040436.3(YARS2):c.582C>T (p.Arg194=)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002633655 SCV003515753 likely benign not provided 2024-11-05 criteria provided, single submitter clinical testing
GeneDx RCV002633655 SCV005201217 uncertain significance not provided 2023-05-30 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge
PreventionGenetics, part of Exact Sciences RCV003898890 SCV004712169 likely benign YARS2-related disorder 2021-10-25 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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