ClinVar Miner

Variants studied for Perrault syndrome 4

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 total
14 7 9 1 7 38

Gene and significance breakdown #

Total genes and gene combinations: 1
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
LARS2 14 7 9 1 7 38

Submitter and significance breakdown #

Total submitters: 17
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
OMIM 10 0 0 0 0 10
Genome-Nilou Lab 0 0 0 0 6 6
Baylor Genetics 0 0 4 0 0 4
Reproductive Development, Murdoch Childrens Research Institute 3 1 0 0 0 4
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 2 1 1 4
Molecular Genetics and RNA Biology, Humanitas University 3 0 0 0 0 3
MGZ Medical Genetics Center 0 1 1 0 0 2
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement, Assistance Publique Hopitaux de Paris 2 0 0 0 0 2
Kids Research, The Children's Hospital at Westmead 0 2 0 0 0 2
Precision Medicine Center, Zhengzhou University 1 1 0 0 0 2
Deafness Molecular Diagnostic Center, Chinese PLA General Hospital 2 0 0 0 0 2
King Laboratory, University of Washington 0 1 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 1
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 0 1 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.