ClinVar Miner

Variants studied for Perrault syndrome 2

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
4 10 7 2 1 21

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 benign total
HARS2 4 10 7 2 1 21

Submitter and significance breakdown #

Total submitters: 12
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 5 0 0 0 5
OMIM 4 0 0 0 0 4
Fulgent Genetics, Fulgent Genetics 0 0 0 2 0 2
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 2 0 0 0 2
Precision Medicine Center, Zhengzhou University 0 2 0 0 0 2
WangQJ Lab, Chinese People's Liberation Army General Hospital 0 1 1 0 0 2
Deafness Molecular Diagnostic Center, Chinese PLA General Hospital 0 0 2 0 0 2
Baylor Genetics 0 0 1 0 0 1
Revvity Omics, Revvity Omics 0 0 1 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 1
Genome-Nilou Lab 0 0 0 0 1 1

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