ClinVar Miner

Submissions for variant NM_007126.5(VCP):c.446-17A>G

gnomAD frequency: 0.00004  dbSNP: rs543629555
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002077140 SCV002427035 likely benign Frontotemporal dementia and/or amyotrophic lateral sclerosis 6; Inclusion body myopathy with Paget disease of bone and frontotemporal dementia 2023-08-28 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001700898 SCV001917636 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001700898 SCV001932234 likely benign not provided no assertion criteria provided clinical testing

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