ClinVar Miner

Variants studied for Renal tubular acidosis with progressive nerve deafness

Coded as:
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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
24 16 83 27 23 160

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
ATP6V1B1 24 16 82 27 21 157
ATP6V1B1, LOC129934049 0 0 1 0 2 3

Submitter and significance breakdown #

Total submitters: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Natera, Inc. 8 0 40 4 10 62
Fulgent Genetics, Fulgent Genetics 8 6 24 17 0 55
Illumina Laboratory Services, Illumina 0 0 31 3 18 52
Counsyl 1 2 5 4 4 16
Genome-Nilou Lab 0 0 1 0 13 14
Revvity Omics, Revvity Omics 5 0 4 0 0 9
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 4 0 0 0 7
OMIM 6 0 0 0 0 6
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 2 2 0 0 4
Laboratory of Cyto-molecular Genetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS), New Delhi 1 3 0 0 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 0 0 0 0 3
Mendelics 1 1 0 0 0 2
3billion 2 0 0 0 0 2
Baylor Genetics 0 0 1 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 0 1 0 0 1
Kamineni Academy of Medical Sciences & Research Centre, Kamineni Hospitals 1 0 0 0 0 1
Broad Institute Rare Disease Group, Broad Institute 0 0 0 0 1 1
Pars Genome Lab 0 0 0 0 1 1
WangQJ Lab, Chinese People's Liberation Army General Hospital 0 0 1 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 0 0 0 1

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