ClinVar Miner

Variants studied for Autosomal recessive congenital ichthyosis 10

Coded as:
Minimum submission review status: Collection method:
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Gene type:
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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
13 26 44 8 18 103

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
PNPLA1 12 26 44 8 18 102
KCNQ2 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 17
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 0 0 37 7 17 61
Fulgent Genetics, Fulgent Genetics 2 7 0 1 0 10
OMIM 6 0 0 0 0 6
Uitto Lab, Thomas Jefferson University 1 4 1 0 0 6
Genome-Nilou Lab 0 0 0 0 6 6
Neuberg Centre For Genomic Medicine, NCGM 1 4 1 0 0 6
Unité de Différenciation Epithéliale et Auto-Immunité Rhumatoïde, INSERM - Université Paul Sabatier 0 5 0 0 0 5
Juno Genomics, Hangzhou Juno Genomics, Inc 0 2 1 0 0 3
3billion 0 1 1 1 0 3
Narges Medical Genetic and Prenatal Diagnosis Lab 2 0 1 0 0 3
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 1 0 0 2
Genetics Department, Catlab 0 1 1 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Kamineni Academy of Medical Sciences & Research Centre, Kamineni Hospitals 1 0 0 0 0 1
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 0 1 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 1
New York Genome Center 1 0 0 0 0 1

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