ClinVar Miner

Submissions for variant NM_007126.5(VCP):c.129+47G>A

gnomAD frequency: 0.17835  dbSNP: rs10972300
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000253783 SCV000311704 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV001660302 SCV001872276 benign not provided 2018-07-06 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002244624 SCV002514463 benign Charcot-Marie-Tooth disease type 2Y 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002244623 SCV002514465 benign Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002244622 SCV002514466 benign Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 2021-12-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001660302 SCV005272586 benign not provided criteria provided, single submitter not provided

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