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
25 36 196 174 69 1 457

Condition and significance breakdown #

Total conditions: 7
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Agenesis of the corpus callosum with peripheral neuropathy 15 33 169 22 33 1 266
not provided 14 4 21 135 45 0 215
not specified 0 0 3 29 14 0 43
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; Corpus callosum, agenesis of; Low-set ears; Abnormal facial shape; Clinodactyly of the 5th finger 0 1 0 0 0 0 1
Inborn genetic diseases 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 26
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 13 4 0 128 17 0 162
Illumina Clinical Services Laboratory,Illumina 1 0 110 17 30 0 158
GeneDx 0 0 12 30 37 0 79
Natera, Inc. 0 0 55 3 8 0 66
Counsyl 0 31 9 2 0 0 42
Genetic Services Laboratory, University of Chicago 2 0 2 7 8 0 19
OMIM 10 0 0 0 0 0 10
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 3 2 3 0 8
Inherited Neuropathy Consortium 0 0 8 0 0 0 8
Integrated Genetics/Laboratory Corporation of America 2 1 0 0 4 0 7
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 5 1 1 0 7
Baylor Genetics 4 1 1 0 0 0 6
PreventionGenetics, 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
CeGaT Praxis fuer Humangenetik Tuebingen 1 0 1 2 0 0 4
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 2 1 0 0 3
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 2 0 0 0 2
Myriad Women's Health, Inc. 2 0 0 0 0 0 2
Ambry Genetics 0 0 1 0 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,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
Kariminejad - Najmabadi Pathology & Genetics Center 0 0 1 0 0 0 1

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