ClinVar Miner

Submissions for variant NM_007126.5(VCP):c.2160+8T>G

gnomAD frequency: 0.00001  dbSNP: rs564249854
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000918877 SCV001064200 benign Frontotemporal dementia and/or amyotrophic lateral sclerosis 6; Inclusion body myopathy with Paget disease of bone and frontotemporal dementia 2024-06-28 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001580009 SCV001809349 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001580009 SCV001971380 likely benign not provided no assertion criteria provided clinical testing

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