ClinVar Miner

Submissions for variant NM_013254.4(TBK1):c.2139-7G>A

gnomAD frequency: 0.00001  dbSNP: rs534404556
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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 RCV002153421 SCV002456832 likely benign Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 2021-01-13 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV002153421 SCV003827053 uncertain significance Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 2021-06-02 criteria provided, single submitter clinical testing

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