ClinVar Miner

Submissions for variant NM_007126.5(VCP):c.2193C>T (p.Ile731=)

gnomAD frequency: 0.00017  dbSNP: rs186657793
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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 RCV001520804 SCV001729994 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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