ClinVar Miner

Submissions for variant NM_007126.5(VCP):c.1696-4A>G

gnomAD frequency: 0.00001  dbSNP: rs963637081
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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 RCV000973833 SCV001121616 likely benign Frontotemporal dementia and/or amyotrophic lateral sclerosis 6; Inclusion body myopathy with Paget disease of bone and frontotemporal dementia 2023-04-14 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004543636 SCV004792391 likely benign VCP-related disorder 2019-02-21 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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