Variants studied for Perrault syndrome 2

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		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
6	15	11	2	1	32

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	6	15	11	2	1	32

Submitter and significance breakdown #

Total submitters: 16

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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
Institute of Rare Diseases, West China Hospital, Sichuan University	1	3	0	0	0	4
OMIM	4	0	0	0	0	4
Department of Pathology and Laboratory Medicine, Sinai Health System	0	0	3	0	0	3
Genetics Department, Hospital Ramon y Cajal-IRYCIS	1	2	0	0	0	3
Baylor Genetics	0	0	2	0	0	2
ClinVar Staff, National Center for Biotechnology Information (NCBI)	0	2	0	0	0	2
Deafness Molecular Diagnostic Center, Chinese PLA General Hospital	0	0	2	0	0	2
Fulgent Genetics, Fulgent Genetics	0	0	0	2	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
Genome-Nilou Lab	0	0	0	0	1	1
Revvity Omics, Revvity	0	0	1	0	0	1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center	0	0	1	0	0	1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	0	1	0	0	1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	0	1	0	0	0	1

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