ClinVar Miner

Submissions for variant NM_007126.5(VCP):c.234T>C (p.Ser78=)

dbSNP: rs1202208932
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001311775 SCV001502076 likely benign not provided 2021-01-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003770634 SCV004575559 likely benign Frontotemporal dementia and/or amyotrophic lateral sclerosis 6; Inclusion body myopathy with Paget disease of bone and frontotemporal dementia 2023-07-10 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004770031 SCV005380475 likely benign not specified 2024-08-21 criteria provided, single submitter clinical testing

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