ClinVar Miner

Variants studied for Perrault syndrome

Included ClinVar conditions (10):
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
29 14 26 10 8 1 82

Gene and significance breakdown #

Total genes and gene combinations: 7
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
HSD17B4 8 4 24 9 8 1 49
LARS2 8 3 1 1 0 0 13
HARS2 2 7 1 0 0 0 9
TWNK 5 0 0 0 0 0 5
CLPP 4 0 0 0 0 0 4
CLDN14, SGO2 1 0 0 0 0 0 1
ERAL1 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 17
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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 2 1 0 1 3 0 7
Molecular Genetics Laboratory,University Hospital Copenhagen 0 5 0 0 0 0 5
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 2 0 0 0 0 3
Fulgent Genetics 0 1 2 0 0 0 3
Molecular Genetics and RNA Biology, Humanitas University 3 0 0 0 0 0 3
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
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
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

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