ClinVar Miner

Submissions for variant NM_007126.5(VCP):c.1082-18_1082-8dup

dbSNP: rs11272867
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV003891940 SCV000311702 benign VCP-related condition 2020-03-27 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Illumina Laboratory Services, Illumina RCV000321686 SCV000479815 benign Amyotrophic Lateral Sclerosis, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000383262 SCV000479816 benign Inclusion Body Myopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000639658 SCV000761238 benign Frontotemporal dementia and/or amyotrophic lateral sclerosis 6; Inclusion body myopathy with Paget disease of bone and frontotemporal dementia 2024-02-01 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000243886 SCV000862968 benign not specified 2018-08-14 criteria provided, single submitter clinical testing
GeneDx RCV001597014 SCV001832208 benign not provided 2018-07-06 criteria provided, single submitter clinical testing
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital RCV000243886 SCV001984380 benign not specified 2019-12-15 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000243886 SCV001741332 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000243886 SCV001807798 benign not specified no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000243886 SCV001919544 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000243886 SCV001969889 benign not specified no assertion criteria provided clinical testing

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