ClinVar Miner

Variants in gene WNK1

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Minimum submission review status: Collection method:
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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
14 2 206 107 57 353

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 1 0 109 42 24 176
Hereditary sensory and autonomic neuropathy type II 0 0 63 73 24 160
Pseudohypoaldosteronism, type 2 0 0 63 73 24 160
not provided 1 2 26 3 9 41
not specified 0 0 2 4 23 29
Hereditary sensory and autonomic neuropathy type IIA 12 0 4 0 12 28
Charcot-Marie-Tooth disease 0 0 5 0 0 5
Pseudohypoaldosteronism type 2C 2 0 1 0 0 3
Variant of unknown significance 0 0 2 0 0 2

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 1 0 109 42 24 176
Illumina Clinical Services Laboratory,Illumina 0 0 64 73 24 161
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 12 2 6 20
GeneDx 1 1 8 2 7 19
Athena Diagnostics Inc 0 0 1 0 16 17
PreventionGenetics 0 0 0 0 15 15
OMIM 11 0 2 0 0 13
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 3 1 3 7
GeneReviews 5 0 0 0 0 5
Inherited Neuropathy Consortium 0 0 5 0 0 5
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
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 1 2 0 3
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 0 2 0 0 2
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 0 0 1 1
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
Department of Neurology,Hospital Garcia de Orta 1 0 0 0 0 1

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