Variants studied for Progressive myoclonic epilepsy type 3

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	affects	total
29	23	212	136	22	2	399

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	affects	total
KCTD7	27	23	169	110	20	2	326
KCTD7, LOC129998533	2	0	41	26	2	0	71
CLN3	0	0	1	0	0	0	1
KCTD7, LOC129998533, LOC129998534, LOC129998535	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	affects	total
Labcorp Genetics (formerly Invitae), Labcorp	18	6	136	129	5	0	294
Illumina Laboratory Services, Illumina	0	0	74	7	19	0	100
OMIM	7	0	0	0	0	0	7
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	1	2	3	0	0	0	6
Revvity Omics, Revvity	0	2	3	0	0	0	5
Fulgent Genetics, Fulgent Genetics	1	2	2	0	0	0	5
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India	1	2	1	0	0	0	4
Baylor Genetics	0	0	2	0	0	0	2
Mendelics	2	0	0	0	0	0	2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	1	1	0	0	0	0	2
Genomic Research Center, Shahid Beheshti University of Medical Sciences	0	0	2	0	0	0	2
Gene Discovery Core-Manton Center, Boston Children's Hospital	0	2	0	0	0	0	2
Undiagnosed Diseases Network, NIH	0	2	0	0	0	0	2
IRCCS Fondazione Stella Maris, University of Pisa	0	2	0	0	0	0	2
Children’s Center Hospital, Tehran University of Medical Sciences	0	0	0	0	0	2	2
Genome-Nilou Lab	0	0	0	0	2	0	2
Neuberg Centre For Genomic Medicine, NCGM	0	1	1	0	0	0	2
Human Genome Lab, NIMHANS, National Institute of Mental Health and Neuro Sciences	0	2	0	0	0	0	2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	0	0	0	1	0	0	1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics	0	0	1	0	0	0	1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City	0	1	0	0	0	0	1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University	1	0	0	0	0	0	1
New York Genome Center	0	1	0	0	0	0	1
Lifecell International Pvt. Ltd	0	1	0	0	0	0	1
3billion, Medical Genetics	0	0	1	0	0	0	1

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