Variants studied for Jervell and Lange-Nielsen syndrome 1

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	not provided	total
16	5	65	17	21	7	131

Gene and significance breakdown #

Total genes and gene combinations: 3

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
KCNQ1	15	4	61	17	19	7	123
KCNQ1, KCNQ1OT1	1	0	4	0	2	0	7
KCNE1	0	1	0	0	0	0	1

Submitter and significance breakdown #

Total submitters: 15

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Illumina Laboratory Services, Illumina	0	0	61	17	21	0	99
OMIM	8	0	0	0	0	0	8
ClinVar Staff, National Center for Biotechnology Information (NCBI)	0	0	0	0	0	4	4
Biotechnology Research Center, Pasteur Institute of Iran	4	0	0	0	0	0	4
GeneReviews	0	0	0	0	0	3	3
Genetics and Molecular Pathology, SA Pathology	0	0	2	0	0	0	2
Institute of Human Genetics, University of Leipzig Medical Center	0	1	1	0	0	0	2
3billion	2	0	0	0	0	0	2
Health in Code S.L.	0	1	0	0	0	0	1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	0	1	0	0	0	1
CSER _CC_NCGL, University of Washington	0	1	0	0	0	0	1
Medical Molecular Genetics Department, National Research Center	0	1	0	0	0	0	1
Division of Laboratory Medicine and Clinical Genetics, Chiba University Hospital	1	0	0	0	0	0	1
Clinical Genetics Laboratory, Region Ostergotland	0	1	0	0	0	0	1
WangQJ Lab, Chinese People's Liberation Army General Hospital	1	0	0	0	0	0	1

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