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
3 3 7 9 8 1 24

Condition and significance breakdown #

Total conditions: 8
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Vitamin B12-responsive methylmalonic acidemia type cblB 2 3 5 2 6 0 16
not specified 0 0 0 5 5 0 9
Hyperimmunoglobulin D with periodic fever 0 0 1 2 4 1 8
Methylmalonic acidemia 0 0 3 3 2 0 8
Mevalonic aciduria 0 0 1 2 4 0 7
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
none provided 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 15
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 0 0 6 3 5 0 12
Invitae 0 2 0 2 6 0 10
Natera, Inc. 0 0 2 0 4 0 6
GeneDx 0 0 0 4 1 0 5
PreventionGenetics,PreventionGenetics 0 0 0 0 4 0 4
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 0 0 4 0 4
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 0 0 3 0 3
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 0 0 2 0 2
Counsyl 0 1 1 0 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 2 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
Unité médicale des maladies autoinflammatoires, CHRU Montpellier 0 0 0 0 0 1 1
Baumgartner lab,University Children's Hospital Zurich 1 0 0 0 0 0 1

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