ClinVar Miner

Variants studied for Autosomal recessive nonsyndromic hearing loss 63

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 total
8 5 76 2 3 90

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 total
ANAPC15, LRTOMT, TOMT 1 2 28 0 1 32
LRTOMT, TOMT 6 2 11 0 0 17
ANAPC15, LRTOMT 0 0 13 1 0 14
LRRC51, LRTOMT 1 0 11 0 2 12
LRTOMT, NUMA1 0 0 7 1 0 8
LRTOMT 0 0 6 0 0 6
ANAPC15, LRTOMT, MYH9, TOMT 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 16
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 0 0 70 2 0 72
OMIM 5 0 0 0 0 5
3billion 2 1 2 0 0 5
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 0 3 3
Revvity Omics, Revvity 1 1 1 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 1 0 0 2
King Laboratory, University of Washington 0 1 0 0 0 1
MGZ Medical Genetics Center 1 0 0 0 0 1
Mendelics 0 0 0 0 1 1
Fulgent Genetics, Fulgent Genetics 0 0 1 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 0 0 0 1
Breda Genetics srl 0 0 1 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 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 0 0 1 1
Suma Genomics 1 0 0 0 0 1

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