ClinVar Miner

Variants in gene combination LOC125446261, MLC1

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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
7 11 15 26 3 4 57

Condition and significance breakdown #

Total conditions: 6
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 5 5 8 26 3 3 46
Megalencephalic leukoencephalopathy with subcortical cysts 1 4 9 7 0 1 1 19
Megalencephalic leukoencephalopathy with subcortical cysts 1 4 1 1 1 0 8
not specified 0 0 2 0 1 0 3
Cerebellar ataxia; Macrocephaly; CNS demyelination 0 1 0 0 0 0 1
Inborn genetic diseases 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 5 4 8 26 1 0 44
Baylor Genetics 2 6 1 0 0 0 9
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 3 2 0 0 0 6
Natera, Inc. 1 1 1 1 1 0 5
GeneDx 0 1 0 0 2 0 3
UniProtKB/Swiss-Prot 0 0 0 0 0 3 3
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 0 2 0 0 0 2
Myriad Genetics, Inc. 0 1 1 0 0 0 2
OMIM 1 0 0 0 0 0 1
Ambry Genetics 0 0 1 0 0 0 1
PreventionGenetics, part of Exact Sciences 0 0 0 0 1 0 1
Counsyl 0 0 1 0 0 0 1
Mendelics 1 0 0 0 0 0 1
GeneReviews 0 0 0 0 0 1 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 1 0 0 0 0 1
Fulgent Genetics, Fulgent Genetics 0 1 0 0 0 0 1
Illumina Laboratory Services, Illumina 0 0 0 0 1 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 0 0 0 0 1
Biochemistry Laboratory of CDMU, Chengde Medical University 1 0 0 0 0 0 1
NxGen MDx 0 1 0 0 0 0 1
Cardiogenetic Research Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences 1 0 0 0 0 0 1
3billion 0 0 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 0 0 0 0 1
Breakthrough Genomics, Breakthrough Genomics 0 0 0 1 0 0 1

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