ClinVar Miner

Submissions for variant NM_007126.5(VCP):c.924C>T (p.Ala308=)

gnomAD frequency: 0.00024  dbSNP: rs199504528
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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 RCV000946395 SCV001092525 likely benign Frontotemporal dementia and/or amyotrophic lateral sclerosis 6; Inclusion body myopathy with Paget disease of bone and frontotemporal dementia 2024-01-28 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004707497 SCV005226355 likely benign not provided criteria provided, single submitter not provided

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