ClinVar Miner

Submissions for variant NM_013254.4(TBK1):c.2138+2T>C

dbSNP: rs876657406
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001532209 SCV001747654 pathogenic not provided 2021-05-01 criteria provided, single submitter clinical testing
OMIM RCV000185597 SCV000238506 pathogenic Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 2015-05-01 no assertion criteria provided literature only

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