Variants studied for palmoplantar keratoderma-deafness 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	not provided	total
42	4	14	6	3	1	70

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	not provided	total
GJB2	41	4	14	6	3	1	69
MT-CO1, MT-TS1	1	0	0	0	0	0	1

Submitter and significance breakdown #

Total submitters: 9

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Fulgent Genetics, Fulgent Genetics	33	4	14	6	3	0	60
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	5	1	0	0	0	0	6
OMIM	4	0	0	0	0	0	4
Division of Human Genetics, Children's Hospital of Philadelphia	2	0	0	0	0	0	2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	1	0	0	0	0	0	1
Center of Genomic medicine, Geneva, University Hospital of Geneva	1	0	0	0	0	0	1
Medical Genetics, University of Parma	1	0	0	0	0	0	1
Neuberg Centre For Genomic Medicine, NCGM	1	0	0	0	0	0	1
GenomeConnect - Brain Gene Registry	0	0	0	0	0	1	1

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