ClinVar Miner

Variants studied for autosomal dominant nonsyndromic hearing loss 5

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
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
7 3 39 14 24 86

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
GSDME 7 3 37 13 23 82
GSDME, LOC129998098 0 0 0 1 1 2
GSDME, LOC129998104 0 0 2 0 0 2

Submitter and significance breakdown #

Total submitters: 15
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 0 0 34 14 21 69
Genome-Nilou Lab 0 0 0 0 7 7
OMIM 5 0 0 0 0 5
Revvity Omics, Revvity 1 0 3 0 0 4
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 0 1 2
Fulgent Genetics, Fulgent Genetics 0 0 2 0 0 2
Baylor Genetics 0 1 0 0 0 1
King Laboratory, University of Washington 1 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 1
Santos-Cortez Lab, University of Colorado School of Medicine 0 1 0 0 0 1
3billion 1 0 0 0 0 1
Kids Neuroscience Centre, Sydney Children's Hospitals Network 0 1 0 0 0 1
DASA 1 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 1
Epigenetics and Oncology Laboratory, Southwest Medical University 1 0 0 0 0 1

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