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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		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	10	17	3	2	39

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	9	16	3	2	36
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
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	2	1	0	0	3
3billion	0	0	1	2	0	3
Neuberg Centre For Genomic Medicine, NCGM	0	1	2	0	0	3
Randwick Genomics Laboratory, Prince of Wales Hospital Sydney, Australia, New South Wales Health Pathology	0	2	0	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
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
Fulgent Genetics, Fulgent Genetics	0	0	1	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
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital	0	0	0	1	0	1

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