ClinVar Miner

Submissions for variant NM_007126.5(VCP):c.2316-4A>G

gnomAD frequency: 0.00006  dbSNP: rs755625059
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000639664 SCV000761244 likely benign Frontotemporal dementia and/or amyotrophic lateral sclerosis 6; Inclusion body myopathy with Paget disease of bone and frontotemporal dementia 2023-08-09 criteria provided, single submitter clinical testing

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