ClinVar Miner

Variants in gene MVK

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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 not provided total
37 18 115 55 23 90 274

Condition and significance breakdown #

Total conditions: 11
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Hyperimmunoglobulin D with periodic fever 10 2 39 6 9 90 142
Mevalonic aciduria; Porokeratosis 3, disseminated superficial actinic type; Hyperimmunoglobulin D with periodic fever 21 6 60 29 7 0 123
Mevalonic aciduria 10 1 38 5 9 0 63
not provided 13 8 23 17 2 0 62
not specified 2 0 6 20 12 0 35
none provided 0 0 1 5 7 0 13
Porokeratosis 3, disseminated superficial actinic type 8 0 0 0 0 0 8
MVK-Related Disorders 0 0 3 0 0 0 3
Mevalonic aciduria; Hyperimmunoglobulin D with periodic fever 2 0 0 0 0 0 2
Nemaline myopathy 5 0 0 0 0 1 0 1
Retinal dystrophy 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 26
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 21 6 60 34 7 0 128
Unité médicale des maladies autoinflammatoires, CHRU Montpellier 0 0 0 0 0 90 90
Illumina Clinical Services Laboratory,Illumina 1 0 40 5 9 0 55
GeneDx 11 4 8 16 5 0 44
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 2 0 7 9 11 0 29
CeGaT Praxis fuer Humangenetik Tuebingen 4 2 8 5 0 0 19
OMIM 18 0 0 0 0 0 18
PreventionGenetics, PreventionGenetics 0 0 0 2 5 0 7
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 2 0 4 1 0 0 7
Baylor Genetics 3 0 1 0 0 0 4
Genetic Services Laboratory, University of Chicago 1 0 1 2 0 0 4
Blueprint Genetics 1 2 1 0 0 0 4
Mendelics 1 1 0 1 0 0 3
Institute of Human Genetics, Klinikum rechts der Isar 2 1 0 0 0 0 3
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals 3 0 0 0 0 0 3
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 0 0 0 1 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 1 0 0 0 0 2
Fulgent Genetics,Fulgent Genetics 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 0 0 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 1 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 0 0 0 0 1
Department of Pathology and Laboratory Medicine,Sinai Health System 1 0 0 0 0 0 1
Broad Institute Rare Disease Group, Broad Institute 0 0 0 0 1 0 1
Gharavi Laboratory,Columbia University 0 0 1 0 0 0 1
UOSD Laboratory of Genetics & Genomics of Rare Diseases,Istituto Giannina Gaslini 0 0 1 0 0 0 1

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