ClinVar Miner

Submissions for variant NM_013254.4(TBK1):c.201T>C (p.Ile67=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002614660 SCV002961157 benign Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 2023-06-26 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003898452 SCV004716106 likely benign TBK1-related disorder 2022-05-05 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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