ClinVar Miner

Submissions for variant NM_005548.3(KARS1):c.426C>T (p.Leu142=)

gnomAD frequency: 0.00014  dbSNP: rs181866651
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000879410 SCV000726180 benign not provided 2019-07-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000879410 SCV001022440 benign not provided 2023-10-16 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004544771 SCV004783984 likely benign KARS1-related disorder 2023-12-29 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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