ClinVar Miner

Variants in gene combination MMAB, 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
12 8 23 46 11 2 84

Condition and significance breakdown #

Total conditions: 11
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Methylmalonic aciduria, cblB type 11 8 20 36 8 1 76
not provided 1 0 4 5 6 1 15
not specified 0 0 0 5 5 0 9
Methylmalonic acidemia 0 0 3 3 2 0 8
Hyperimmunoglobulin D with periodic fever 0 0 1 2 4 0 7
Mevalonic aciduria 0 0 1 2 4 0 7
MMAB-related condition 0 0 0 4 0 0 4
Autoinflammatory syndrome 0 0 1 0 1 0 2
Inborn genetic diseases 0 0 2 0 0 0 2
Mevalonic aciduria; Porokeratosis 3, disseminated superficial actinic type; Hyperimmunoglobulin D with periodic fever 0 0 0 0 1 0 1
Porokeratosis 3, disseminated superficial actinic type 1 0 0 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
Invitae 9 3 8 35 7 0 62
Natera, Inc. 1 1 8 0 6 0 16
GeneDx 1 0 1 7 6 0 15
Illumina Laboratory Services, Illumina 0 0 7 3 5 0 13
PreventionGenetics, part of Exact Sciences 0 0 0 4 4 0 8
Eurofins Ntd Llc (ga) 0 0 1 0 4 0 5
Baylor Genetics 1 3 0 0 0 0 4
Counsyl 0 2 2 0 0 0 4
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 0 0 3 0 3
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 0 2 0 3
Revvity Omics, Revvity 0 0 3 0 0 0 3
Baumgartner lab, University Children's Hospital Zurich 3 0 0 0 0 0 3
Genome Diagnostics Laboratory, The Hospital for Sick Children 0 0 1 0 1 0 2
Ambry Genetics 0 0 2 0 0 0 2
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 1 0 2
Clinical Genetics, Academic Medical Center 0 0 0 0 2 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 0 1 1 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 2 0 2
Genome-Nilou Lab 0 0 2 0 0 0 2
OMIM 1 0 0 0 0 0 1
Genetic Services Laboratory, University of Chicago 0 0 0 1 0 0 1
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 1 0 0 0 0 0 1
MGZ Medical Genetics Center 0 0 1 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Fulgent Genetics, Fulgent Genetics 0 0 1 0 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 1 0 0 1
Inserm U 954, Faculté de Médecine de Nancy 0 0 0 0 0 1 1
CeGaT Center for Human Genetics Tuebingen 0 0 0 0 1 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 0 1 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 0 1 0 0 0 1

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