ClinVar Miner

Submissions for variant NM_007126.5(VCP):c.975A>G (p.Val325=)

gnomAD frequency: 0.00001  dbSNP: rs749849000
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001468641 SCV001672699 likely benign Frontotemporal dementia and/or amyotrophic lateral sclerosis 6; Inclusion body myopathy with Paget disease of bone and frontotemporal dementia 2023-11-16 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003426124 SCV004157689 likely benign not provided 2022-07-01 criteria provided, single submitter clinical testing VCP: BP4, BP7

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