ClinVar Miner

Variants studied for Perrault syndrome 3

Coded as:
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
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
4 5 1 1 2 1 14

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 3 4 1 1 1 1 11
CLPP, LOC130063288 1 1 0 0 1 0 3

Submitter and significance breakdown #

Total submitters: 9
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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
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
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Reproductive Development, Murdoch Childrens Research Institute 0 1 0 0 0 0 1

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