ClinVar Miner

Submissions for variant NM_013254.4(TBK1):c.2139-11G>A

gnomAD frequency: 0.00800  dbSNP: rs41292027
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Total submissions: 4
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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 RCV000454770 SCV000540503 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: Frequency
GeneDx RCV001566946 SCV001790537 likely benign not provided 2021-01-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002056706 SCV002386268 benign Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 2024-01-31 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001566946 SCV005216073 likely benign not provided criteria provided, single submitter not provided

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