ClinVar Miner

Submissions for variant NM_013254.4(TBK1):c.541-9del

dbSNP: rs369498196
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002060700 SCV002385725 benign Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 2021-11-25 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002499015 SCV002796819 likely benign Frontotemporal dementia and/or amyotrophic lateral sclerosis 4; Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8 2021-10-26 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000625498 SCV000745752 likely benign Glaucoma 1, open angle, P 2017-01-17 no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001579548 SCV001807636 benign not specified no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001579548 SCV001924440 benign not specified no assertion criteria provided clinical testing

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