ClinVar Miner

Variants studied for mevalonate kinase deficiency

Included ClinVar conditions (4):
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
66 26 174 261 23 92 564

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
MVK 66 26 172 259 18 92 556
MMAB, MVK 0 0 1 2 5 0 7
MMAB, MVK, UBE3B 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 31
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 55 14 134 250 15 0 468
Unité médicale des maladies autoinflammatoires, CHRU Montpellier 0 0 0 0 0 91 91
Illumina Laboratory Services, Illumina 1 0 39 7 13 0 60
Fulgent Genetics, Fulgent Genetics 6 3 26 9 0 0 44
OMIM 15 0 0 0 0 0 15
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 8 0 0 0 0 0 8
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 2 1 0 2 0 0 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 4 1 0 0 0 0 5
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 3 1 0 0 0 5
Baylor Genetics 3 0 1 0 0 0 4
Mendelics 1 1 0 1 0 0 3
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 2 1 0 0 0 0 3
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 2 1 0 0 0 0 3
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals 3 0 0 0 0 0 3
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 1 0 0 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 2 0 0 0 2
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 1 0 1 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 0 2 0 0 0 2
Clinic of Clinical Immunology with Stem Cell Bank, Expert Centre for Rare Diseases - PID, University Hospital "Alexandrovska" 1 1 0 0 0 0 2
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 0 0 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 1 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 0 0 0 0 1
Undiagnosed Diseases Network, NIH 1 0 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 1 0 0 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 0 0 0 0 0 1
UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini 0 0 1 0 0 0 1
Heon Lab, The Hospital for Sick Children 0 1 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1

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