ClinVar Miner

Variants studied for inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign total
7 5 32 1 25 70

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
VCP 7 5 32 1 25 70

Submitter and significance breakdown #

Total submitters: 18
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 0 0 26 1 23 50
OMIM 7 0 0 0 0 7
Genome-Nilou Lab 0 0 0 0 4 4
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 2 0 0 2
Centogene AG - the Rare Disease Company 0 0 1 0 0 1
Labcorp Genetics (formerly Invitae), Labcorp 0 0 1 0 0 1
Mendelics 0 1 0 0 0 1
Fulgent Genetics, Fulgent Genetics 1 0 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 0 0 0 0 1
Undiagnosed Diseases Network, NIH 0 0 1 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 1
Molecular Genetics Lab, CHRU Brest 0 1 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 0 1

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