ClinVar Miner

Variants in gene HARS2

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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
14 25 125 88 15 3 239

Condition and significance breakdown #

Total conditions: 7
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 9 10 87 75 14 0 179
Inborn genetic diseases 0 0 39 2 0 0 41
Perrault syndrome 2 6 15 11 2 1 0 32
not specified 0 0 10 13 4 0 26
HARS2-related disorder 0 0 1 8 1 0 10
Perrault syndrome 0 1 0 0 0 3 4
Sensorineural hearing loss disorder 0 3 0 0 0 0 3

Submitter and significance breakdown #

Total submitters: 30
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 9 7 34 51 6 0 107
GeneDx 0 6 53 30 11 0 100
Ambry Genetics 0 0 39 2 0 0 41
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 9 8 3 0 21
Breakthrough Genomics, Breakthrough Genomics 0 0 1 10 0 0 11
PreventionGenetics, part of Exact Sciences 0 0 1 8 1 0 10
CeGaT Center for Human Genetics Tuebingen 0 0 5 3 0 0 8
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 5 0 0 0 0 5
OMIM 4 0 0 0 0 0 4
Institute of Rare Diseases, West China Hospital, Sichuan University 1 3 0 0 0 0 4
Eurofins Ntd Llc (ga) 0 0 1 1 1 0 3
GeneReviews 0 0 0 0 0 3 3
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 3 0 0 0 3
Dept. of Evolution and Genomic Sciences, University of Manchester 0 3 0 0 0 0 3
Genetics Department, Hospital Ramon y Cajal-IRYCIS 1 2 0 0 0 0 3
Baylor Genetics 0 0 2 0 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 0 0 0 2 0 0 2
Fulgent Genetics, Fulgent Genetics 0 0 0 2 0 0 2
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 2 0 0 0 0 2
Precision Medicine Center, Zhengzhou University 0 2 0 0 0 0 2
WangQJ Lab, Chinese People's Liberation Army General Hospital 0 1 1 0 0 0 2
Deafness Molecular Diagnostic Center, Chinese PLA General Hospital 0 0 2 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 0 0 0 1
Revvity Omics, Revvity 0 0 1 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 1 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 0 0 1
Genome-Nilou Lab 0 0 0 0 1 0 1

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