Variants studied for autosomal dominant keratitis-ichthyosis-hearing loss 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
41	6	15	6	3	71

Gene and significance breakdown #

Total genes and gene combinations: 1

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
GJB2	41	6	15	6	3	71

Submitter and significance breakdown #

Total submitters: 10

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Fulgent Genetics, Fulgent Genetics	33	4	14	6	3	60
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	5	1	0	0	0	6
OMIM	5	0	0	0	0	5
Division of Human Genetics, Children's Hospital of Philadelphia	2	0	0	0	0	2
Baylor Genetics	1	0	0	0	0	1
Nemer Genomics and Translation Biomedicine Lab, American University of Beirut	1	0	0	0	0	1
FAHD UNIT, Department of Genetics, King Faisal Specialist Hospital and Research Centre	0	1	0	0	0	1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens	0	1	0	0	0	1
Genome-Nilou Lab	0	0	1	0	0	1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	1	0	0	0	0	1

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