ClinVar Miner

Submissions for variant NM_006567.5(FARS2):c.1014C>T (p.Arg338=)

gnomAD frequency: 0.00012  dbSNP: rs41302855
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine RCV000714930 SCV000845696 benign Combined oxidative phosphorylation defect type 14 2018-06-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000714930 SCV001679700 likely benign Combined oxidative phosphorylation defect type 14 2025-02-02 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003918155 SCV004731344 likely benign FARS2-related disorder 2019-05-28 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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