ClinVar Miner

Variants studied for Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome

Coded as:
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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 total
8 11 18 3 2 40

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
MIPEP 7 10 17 3 2 37
LOC130009384, LOC130009385, MIPEP 0 1 0 0 0 1
LOC130009386, MIPEP 1 0 0 0 0 1
MIPEP, PCOTH 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 18
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Baylor Genetics 0 0 8 0 0 8
OMIM 7 0 0 0 0 7
Undiagnosed Diseases Network, NIH 1 2 1 0 0 4
Neuberg Centre For Genomic Medicine, NCGM 0 1 3 0 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 2 1 0 0 3
3billion 0 0 1 2 0 3
Randwick Genomics Laboratory, Prince of Wales Hospital Sydney, Australia, New South Wales Health Pathology 0 2 0 0 0 2
Fulgent Genetics, Fulgent Genetics 0 0 2 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 2 0 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 2 0 0 0 2
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 1 0 1 0 2
Genome-Nilou Lab 0 0 0 0 2 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 1
Revvity Omics, Revvity 0 0 1 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 0 0 0 1

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