ClinVar Miner

Variants in gene MLC1

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
20 29 59 29 24 9 149

Condition and significance breakdown #

Total conditions: 5
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Megalencephalic leukoencephalopathy with subcortical cysts 0 0 37 25 3 0 65
Megalencephalic leukoencephalopathy with subcortical cysts 1 19 27 19 2 5 0 65
not provided 3 2 6 1 0 9 21
not specified 0 0 0 10 19 0 21
Cerebellar ataxia; Macrocephalus; CNS demyelination 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 0 2 37 25 3 0 67
Counsyl 3 25 16 2 1 0 47
PreventionGenetics,PreventionGenetics 0 0 0 0 19 0 19
OMIM 12 0 0 0 0 0 12
GeneReviews 5 0 0 0 4 0 9
UniProtKB/Swiss-Prot 0 0 0 0 0 9 9
Genetic Services Laboratory, University of Chicago 0 0 0 8 0 0 8
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 4 2 0 0 6
GeneDx 2 1 1 0 0 0 4
Invitae 2 1 0 0 0 0 3
Genomic Research Center,Shahid Beheshti University of Medical Sciences 1 0 2 0 0 0 3
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 1 1 0 0 2
Biochemistry Laboratory of CDMU,Chengde Medical University 1 1 0 0 0 0 2
Mendelics 1 0 0 0 0 0 1
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics 0 0 1 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 1 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 0 0 0 0 1

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