ClinVar Miner

Submissions for variant NM_007126.5(VCP):c.954C>T (p.Gly318=)

gnomAD frequency: 0.00018  dbSNP: rs377316335
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000338106 SCV000341162 uncertain significance not provided 2018-05-15 criteria provided, single submitter clinical testing
Invitae RCV001069332 SCV001234493 likely benign Frontotemporal dementia and/or amyotrophic lateral sclerosis 6; Inclusion body myopathy with Paget disease of bone and frontotemporal dementia 2024-01-22 criteria provided, single submitter clinical testing

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