ClinVar Miner

Variants studied for Renal tubular acidosis with progressive nerve deafness

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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
25 18 88 27 23 167

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 25 18 87 27 21 164
ATP6V1B1, LOC129934049 0 0 1 0 2 3

Submitter and significance breakdown #

Total submitters: 25
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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 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
MVZ Medizinische Genetik Mainz 1 1 3 0 0 5
Neuberg Centre For Genomic Medicine, NCGM 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
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 2 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
Laboratory of Prof. Karen Avraham, Tel Aviv University 0 1 0 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 Center for Mendelian Genomics, Broad Institute of MIT and Harvard 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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