ClinVar Miner

Variants studied for hyperimmunoglobulinemia D with periodic fever

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 not provided total
60 23 172 261 23 92 558

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 60 23 170 259 18 92 550
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: 25
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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 10 0 0 0 0 0 10
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 2 1 0 2 0 0 5
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 3 1 0 0 0 5
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 4 0 0 0 0 0 4
Baylor Genetics 3 0 0 0 0 0 3
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
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals 2 0 0 0 0 0 2
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
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
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 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
UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini 0 0 1 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1

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