Variants studied for Perrault syndrome 3

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
5	7	1	2	2	1	17

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
CLPP	4	5	1	2	1	1	13
CLPP, LOC130063288	1	2	0	0	1	0	4

Submitter and significance breakdown #

Total submitters: 12

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
OMIM	4	0	0	0	0	0	4
Fulgent Genetics, Fulgent Genetics	0	0	1	1	0	0	2
Department of Molecular and Human Genetics, Baylor College of Medicine	2	0	0	0	0	0	2
Laboratory of Prof. Karen Avraham, Tel Aviv University	0	2	0	0	0	0	2
Undiagnosed Diseases Network, NIH	1	1	0	0	0	0	2
Genome-Nilou Lab	0	0	0	0	2	0	2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India	0	1	0	0	0	0	1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego	0	1	0	0	0	0	1
Institute of Human Genetics, University of Leipzig Medical Center	0	1	0	0	0	0	1
GenomeConnect, ClinGen	0	0	0	0	0	1	1
Reproductive Development, Murdoch Childrens Research Institute	0	1	0	0	0	0	1
3billion	0	0	0	1	0	0	1

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