ClinVar Miner

Variants studied for Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss

Coded as:
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

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
27 38 134 12 1 204

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
ATP6V0A4 25 37 120 12 1 187
ATP6V0A4, LOC129389889 2 0 14 0 0 16
ATP6V1B1 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 17
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Fulgent Genetics, Fulgent Genetics 10 28 121 12 1 172
Neuberg Centre For Genomic Medicine, NCGM 0 3 10 0 0 13
OMIM 11 0 0 0 0 11
Revvity Omics, Revvity 2 1 3 0 0 6
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 1 1 0 0 3
Pediatrics Genetics, Post Graduate Institute of Medical Education and Research 0 2 1 0 0 3
3billion 2 1 0 0 0 3
Baylor Genetics 1 1 0 0 0 2
Department of Pathology and Laboratory Medicine, Sinai Health System 1 1 0 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 1 1 0 0 0 2
Genetics laboratory, Department of Obstetrics & Gynae, Institute of Kidney Diseases & Research Centre Dr. H.L. Trivedi Institute Of Transplantation Sciences 1 1 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 1
Illumina Laboratory Services, Illumina 0 0 1 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 1 0 0 0 0 1
Suma Genomics 1 0 0 0 0 1
MVZ Medizinische Genetik Mainz 1 0 0 0 0 1

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