ClinVar Miner

Variants studied for Polycystic kidney disease 2

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 not provided total
49 13 86 15 19 1 180

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
PKD2 49 13 86 15 19 1 180

Submitter and significance breakdown #

Total submitters: 15
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 0 0 74 15 7 0 96
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 14 3 5 1 14 0 37
Cavalleri Lab, Royal College of Surgeons in Ireland 11 3 1 0 0 0 15
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 9 2 1 0 0 0 12
OMIM 11 0 0 0 0 0 11
Institute of Human Genetics,Cologne University 1 1 2 0 0 0 4
Fulgent Genetics,Fulgent Genetics 3 0 1 0 0 0 4
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 2 0 2 0 0 0 4
Mendelics 0 1 1 0 1 0 3
(GEEPAD) Grupo de Estudio de la Enfermedad Poliquística Autosómica Dominante, Hospitales Universitarios Virgen de las Nieves y San Cecilio (Granada) 0 2 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 0 0 0 1
University of Iowa Renal Genetics Clinic,University of Iowa 1 0 0 0 0 0 1

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