ClinVar Miner

Submissions for variant NM_007126.5(VCP):c.711T>G (p.Pro237=)

gnomAD frequency: 0.00001  dbSNP: rs755771885
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001454230 SCV001657952 likely benign Frontotemporal dementia and/or amyotrophic lateral sclerosis 6; Inclusion body myopathy with Paget disease of bone and frontotemporal dementia 2023-08-04 criteria provided, single submitter clinical testing

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