ClinVar Miner

Submissions for variant NM_013254.4(TBK1):c.1341-3del

dbSNP: rs201728462
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000554302 SCV000656240 benign Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 2025-01-23 criteria provided, single submitter clinical testing
GeneDx RCV001540559 SCV001758455 benign not provided 2020-10-20 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001540559 SCV004698411 likely benign not provided 2024-11-01 criteria provided, single submitter clinical testing TBK1: BP4, BS2

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