ClinVar Miner

Submissions for variant NM_014043.4(CHMP2B):c.493C>T (p.Gln165Ter)

dbSNP: rs63750355
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000001722 SCV000021878 pathogenic Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 2008-01-15 no assertion criteria provided literature only
GeneReviews RCV000001722 SCV000086960 not provided Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 no assertion provided literature only
VIB Department of Molecular Genetics, University of Antwerp RCV000084276 SCV000116412 not provided not provided no assertion provided not provided

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