ClinVar Miner

Variants in gene WNK1

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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
19 3 375 196 144 632

Condition and significance breakdown #

Total conditions: 9
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Hereditary sensory and autonomic neuropathy type IIA; Pseudohypoaldosteronism type 2C 6 1 235 63 32 337
Pseudohypoaldosteronism type 2C 2 0 78 16 97 193
Hereditary sensory and autonomic neuropathy type II 0 0 63 73 24 160
not provided 2 2 39 67 38 148
not specified 0 0 7 7 24 38
Hereditary sensory and autonomic neuropathy type IIA 13 0 4 0 12 29
Pseudohypoaldosteronism type 2A 0 0 13 8 1 22
Charcot-Marie-Tooth disease 0 0 5 0 0 5
Variant of unknown significance 0 0 2 0 0 2

Submitter and significance breakdown #

Total submitters: 21
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 6 1 235 123 35 400
Illumina Clinical Services Laboratory,Illumina 0 0 100 87 98 213
GeneDx 1 1 8 6 33 49
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 12 2 6 20
Athena Diagnostics Inc 0 0 1 0 17 18
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 14 3 0 17
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 7 3 5 15
PreventionGenetics,PreventionGenetics 0 0 0 0 15 15
OMIM 11 0 2 0 0 13
GeneReviews 5 0 0 0 0 5
Inherited Neuropathy Consortium 0 0 5 0 0 5
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics, Cincinnati Children's Hospital Medical Center 0 0 0 0 4 4
Gharavi Laboratory,Columbia University 0 0 4 0 0 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 2 0 0 3
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 0 0 1 1
Mendelics 1 0 0 0 0 1
Fulgent Genetics,Fulgent Genetics 0 0 1 0 0 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 0 1 0 0 1
Molecular Neuropsychiatry & Development Lab,Centre for Addiction and Mental Health 1 0 0 0 0 1
Department of Neurology,Hospital Garcia de Orta 1 0 0 0 0 1

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