ClinVar Miner

Variants studied for Perrault syndrome

Included ClinVar conditions (11):
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
32 19 31 9 6 1 94

Gene and significance breakdown #

Total genes and gene combinations: 8
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
HSD17B4 11 4 26 8 6 1 53
LARS2 8 4 3 1 0 0 16
HARS2 2 7 1 0 0 0 9
TWNK 5 1 1 0 0 0 7
CLPP 4 2 0 0 0 0 6
CLDN14, SGO2 1 0 0 0 0 0 1
ERAL1 1 0 0 0 0 0 1
PRORP 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 23
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 0 0 24 8 5 0 37
OMIM 22 0 0 0 0 0 22
Invitae 6 1 3 0 1 0 11
Molecular Genetics Laboratory,University Hospital Copenhagen 0 5 0 0 0 0 5
Fulgent Genetics,Fulgent Genetics 0 1 2 0 0 0 3
Molecular Genetics and RNA Biology, Humanitas University 3 0 0 0 0 0 3
Baylor Genetics 0 0 2 0 0 0 2
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 2 0 0 0 0 2
Department of Molecular and Human Genetics, Baylor College of Medicine 2 0 0 0 0 0 2
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 1 0 0 0 0 2
Laboratory of Prof. Karen Avraham,Tel Aviv University 0 2 0 0 0 0 2
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 1 1 0 0 0 2
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement,Assistance Publique Hopitaux de Paris 2 0 0 0 0 0 2
Kids Research, The Children's Hospital at Westmead 0 2 0 0 0 0 2
Division of Human Genetics,Children's Hospital of Philadelphia 0 1 0 0 0 0 1
Laboratory of Molecular Genetics,National Institutes of Health 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Noncommunicable Diseases Research Center,Fasa University of Medical Sciences 1 0 0 0 0 0 1
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 1 0 0 1
Molecular Diagnostics Laboratory, M Health: University of Minnesota 0 1 0 0 0 0 1
Dept. of Evolution and Genomic Sciences,University of Manchester 0 1 0 0 0 0 1
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 0 1 0 0 0 0 1
Diagnostics Lab (ASPIRE), CSIR - Centre for Cellular and Molecular Biology 0 0 1 0 0 0 1

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