Variants studied for short QT syndrome type 2

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
24	20	91	26	41	199

Gene and significance breakdown #

Total genes and gene combinations: 2

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
KCNQ1	23	20	87	23	38	188
KCNQ1, KCNQ1OT1	1	0	4	3	3	11

Submitter and significance breakdown #

Total submitters: 12

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Illumina Laboratory Services, Illumina	0	0	40	17	41	98
Fulgent Genetics, Fulgent Genetics	16	13	47	10	0	86
New York Genome Center	0	2	7	0	0	9
Juno Genomics, Hangzhou Juno Genomics, Inc	4	4	0	0	0	8
OMIM	3	0	0	0	0	3
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	1	0	2	0	0	3
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center	0	2	0	0	0	2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center	0	1	0	0	0	1
Knight Diagnostic Laboratories, Oregon Health and Sciences University	0	0	1	0	0	1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues	0	0	1	0	0	1
Institute of Human Genetics, Heidelberg University	0	1	0	0	0	1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn	1	0	0	0	0	1

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