ClinVar Miner

Variants in gene SLC12A6

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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
12 33 105 62 46 1 238

Condition and significance breakdown #

Total conditions: 7
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Andermann syndrome 12 32 76 23 8 1 149
not provided 0 0 17 10 28 0 55
not specified 0 0 4 29 14 0 44
Charcot-Marie-Tooth disease 0 0 8 0 0 0 8
Autosomal recessive axonal hereditary motor and sensory neuropathy 0 0 1 0 0 0 1
Hypertelorism; Low-set ears; Abnormal facial shape; Clinodactyly of the 5th finger; Agenesis of corpus callosum 0 1 0 0 0 0 1
Inborn genetic diseases 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 20
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 1 0 66 21 7 0 95
GeneDx 0 0 12 30 37 0 79
Counsyl 2 31 9 2 0 0 44
Genetic Services Laboratory, University of Chicago 2 0 2 7 8 0 19
OMIM 10 0 0 0 0 0 10
Inherited Neuropathy Consortium 0 0 8 0 0 0 8
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 5 1 1 0 7
PreventionGenetics 0 0 0 0 6 0 6
GeneReviews 6 0 0 0 0 0 6
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 1 1 0 0 3 0 5
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 2 0 1 0 3
Integrated Genetics/Laboratory Corporation of America 2 0 0 0 1 0 3
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 2 1 0 0 3
Baylor Miraca Genetics Laboratories, 1 0 0 0 0 0 1
Ambry Genetics 0 0 1 0 0 0 1
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 1 0 0 0 1
Institute of Human Genetics,Cologne University 0 0 1 0 0 0 1
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1

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