ClinVar Miner

Submissions for variant NM_013254.4(TBK1):c.978T>A (p.Ile326=)

gnomAD frequency: 0.43650  dbSNP: rs7486100
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000455777 SCV000540502 benign not specified 2016-03-29 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: MAF
GeneDx RCV000834431 SCV000976200 benign not provided 2018-05-02 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001515858 SCV001724023 benign Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 2025-02-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001515858 SCV002062239 benign Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 2021-07-15 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV000455777 SCV004233089 benign not specified 2024-01-24 criteria provided, single submitter clinical testing This variant is classified as Benign based on local population frequency. This variant was detected in 73% of patients studied by a panel of primary immunodeficiencies. Number of patients: 69. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics RCV000834431 SCV005229011 benign not provided criteria provided, single submitter not provided
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000625499 SCV000745753 benign Glaucoma 1, open angle, P 2016-04-22 no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000455777 SCV001918730 benign not specified no assertion criteria provided clinical testing

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