ClinVar Miner

Submissions for variant NM_014043.4(CHMP2B):c.311C>A (p.Thr104Asn)

dbSNP: rs281864934
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000055937 SCV000050598 pathogenic Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 2010-03-24 no assertion criteria provided literature only
GeneReviews RCV000055937 SCV000086959 not provided Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 no assertion provided literature only

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