ClinVar Miner

Variants in gene MVK

See also:
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
28 10 61 33 18 90 190

Condition and significance breakdown #

Total conditions: 8
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Hyperimmunoglobulin D with periodic fever 8 0 25 6 0 90 120
not provided 11 6 19 8 4 0 47
Mevalonic aciduria 9 1 25 6 0 0 41
Mevalonic aciduria; Porokeratosis, disseminated superficial actinic 1; Hyperimmunoglobulin D with periodic fever 8 3 16 8 6 0 41
not specified 1 0 2 20 13 0 32
Porokeratosis, disseminated superficial actinic 1 7 0 0 0 0 0 7
MVK-Related Disorders 0 0 3 0 0 0 3
Mevalonic aciduria; Hyperimmunoglobulin D with periodic fever 2 0 0 0 0 0 2

Submitter and significance breakdown #

Total submitters: 19
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Unité médicale des maladies autoinflammatoires, CHRU Montpellier 0 0 0 0 0 90 90
GeneDx 10 4 8 16 5 0 43
Invitae 8 3 16 8 6 0 41
Illumina Clinical Services Laboratory,Illumina 1 0 27 6 0 0 34
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 2 0 4 4 9 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
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 3 2 0 0 6
Genetic Services Laboratory, University of Chicago 1 0 1 2 0 0 4
Blueprint Genetics 1 1 1 0 0 0 3
Baylor Genetics 2 0 0 0 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 0 0 0 1 0 2
Institute of Human Genetics,Klinikum rechts der Isar 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
Gharavi Laboratory,Columbia University 0 0 1 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.