ClinVar Miner

Submissions for variant NM_007126.5(VCP):c.283C>G (p.Arg95Gly)

dbSNP: rs121909332
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000008992 SCV000029206 pathogenic Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 2006-01-15 no assertion criteria provided literature only

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