ClinVar Miner

Variants studied for Autosomal recessive nonsyndromic hearing loss 16

Coded as:
Minimum submission review status: Collection method:
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Gene type:
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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
33 19 11 8 10 3 79

Gene and significance breakdown #

Total genes and gene combinations: 7
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
STRC 24 18 11 8 10 3 69
FRMD5, STRC 3 0 0 0 0 0 3
CATSPER2, CKMT1A, CKMT1B, PDIA3, PPIP5K1, STRC 1 1 0 0 0 0 2
CATSPER2, CKMT1B, STRC 2 0 0 0 0 0 2
CATSPER2, CKMT1A, CKMT1B, LOC130056948, LOC130056949, STRC 1 0 0 0 0 0 1
CATSPER2, CKMT1B, PPIP5K1, STRC 1 0 0 0 0 0 1
CATSPER2, LOC130056948, LOC130056949, STRC 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 28
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Genome-Nilou Lab 5 7 4 8 9 0 33
King Laboratory, University of Washington 4 3 0 0 0 0 7
The Shared Resource Centre "Genome", Research Centre for Medical Genetics 6 1 0 0 0 0 7
Center of Genomic medicine, Geneva, University Hospital of Geneva 4 2 0 0 0 0 6
Baylor Genetics 2 0 2 0 0 0 4
Revvity Omics, Revvity 2 2 0 0 0 0 4
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 2 2 0 0 0 0 4
Genetics Department, Hospital Ramon y Cajal-IRYCIS 3 1 0 0 0 0 4
OMIM 3 0 0 0 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 1 2 0 0 0 3
Division of Human Genetics, Children's Hospital of Philadelphia 0 1 2 0 0 0 3
WangQJ Lab, Chinese People's Liberation Army General Hospital 0 2 1 0 0 0 3
Laboratory of Prof. Karen Avraham, Tel Aviv University 2 0 0 0 0 0 2
Research Group Niklas Dahl, Uppsala University 2 0 0 0 0 0 2
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 0 1 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 0 1 0 0 0 2
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 0 1 1 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 1 0 0 0 0 1
Institute of Human Genetics, Cologne University 1 0 0 0 0 0 1
Mendelics 0 0 0 0 1 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 0 0 0 1 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 1 0 0 0 0 0 1
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital 0 1 0 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 0 1 0 0 1
3billion 1 0 0 0 0 0 1

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