ClinVar Miner

Submissions for variant NM_013254.4(TBK1):c.964C>T (p.His322Tyr)

gnomAD frequency: 0.00033  dbSNP: rs145905497
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000238938 SCV000297236 uncertain significance not specified 2015-07-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000545768 SCV000656248 likely benign Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 2024-12-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003930020 SCV004738127 likely benign TBK1-related disorder 2019-09-25 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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