Variants studied for Epilepsy, childhood absence, susceptibility to, 6

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	risk factor	not provided	total
0	2	48	0	7	4	4	63

Gene and significance breakdown #

Total genes and gene combinations: 1

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Gene or gene combination	likely pathogenic	uncertain significance	benign	risk factor	not provided	total
CACNA1H	2	48	7	4	4	63

Submitter and significance breakdown #

Total submitters: 17

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Submitter	likely pathogenic	uncertain significance	benign	risk factor	not provided	total
New York Genome Center	0	18	0	0	0	18
Baylor Genetics	0	17	0	0	0	17
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	0	0	7	0	0	7
Genome Diagnostics Laboratory, University Medical Center Utrecht	0	0	5	0	0	5
OMIM	0	0	0	4	0	4
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	1	3	0	0	0	4
Mayo Clinic Laboratories, Mayo Clinic	0	2	0	0	0	2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	2	0	0	0	2
GenomeConnect, ClinGen	0	0	0	0	2	2
Neuberg Centre For Genomic Medicine, NCGM	0	2	0	0	0	2
GenomeConnect - Brain Gene Registry	0	0	0	0	2	2
Centogene AG - the Rare Disease Company	0	1	0	0	0	1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues	0	1	0	0	0	1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City	0	1	0	0	0	1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas	0	1	0	0	0	1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center	0	1	0	0	0	1
Diagnostic Genetics, Severance Hospital, Yonsei University College of Medicine	1	0	0	0	0	1

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