ClinVar Miner

Variants studied for Perrault syndrome 4

Included ClinVar conditions (2):
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
11 4 4 1 0 20

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign total
LARS2 11 4 4 1 20

Submitter and significance breakdown #

Total submitters: 11
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Submitter pathogenic likely pathogenic uncertain significance likely benign total
OMIM 10 0 0 0 10
Molecular Genetics and RNA Biology, Humanitas University 3 0 0 0 3
Baylor Genetics 0 0 2 0 2
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement,Assistance Publique Hopitaux de Paris 2 0 0 0 2
Reproductive Development, Murdoch Childrens Research Institute 1 1 0 0 2
Kids Research, The Children's Hospital at Westmead 0 2 0 0 2
Fulgent Genetics,Fulgent Genetics 0 0 1 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 1
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 1 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 1

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