ClinVar Miner

Variants in gene combination ABCA12, SNHG31

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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
18 23 116 245 48 1 416

Condition and significance breakdown #

Total conditions: 10
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 15 16 19 238 44 0 323
Congenital ichthyosis of skin 0 0 43 2 9 0 54
Inborn genetic diseases 0 0 48 2 1 0 51
Autosomal recessive congenital ichthyosis 4B 6 4 6 0 4 0 19
ABCA12-related disorder 0 0 2 9 2 0 13
Autosomal recessive congenital ichthyosis 4A; Autosomal recessive congenital ichthyosis 4B 2 2 3 1 0 1 9
not specified 0 0 5 1 4 0 9
Autosomal recessive congenital ichthyosis 4A 1 2 2 0 3 0 8
Congenital ichthyosiform erythroderma 0 0 2 1 1 0 4
Lamellar ichthyosis 2 2 0 0 0 0 4

Submitter and significance breakdown #

Total submitters: 29
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 12 12 10 233 37 0 304
Illumina Laboratory Services, Illumina 0 0 45 3 10 0 58
Ambry Genetics 0 0 48 2 1 0 51
GeneDx 6 3 5 1 7 0 22
PreventionGenetics, part of Exact Sciences 0 0 2 9 6 0 17
Breakthrough Genomics, Breakthrough Genomics 0 0 1 4 9 0 14
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 2 5 1 0 0 10
CeGaT Center for Human Genetics Tuebingen 0 0 2 3 3 0 8
Fulgent Genetics, Fulgent Genetics 2 2 1 1 0 0 6
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 4 0 1 0 5
Uitto Lab, Thomas Jefferson University 0 3 1 0 0 0 4
OMIM 3 0 0 0 0 0 3
Revvity Omics, Revvity 1 1 1 0 0 0 3
Genome-Nilou Lab 0 0 0 0 3 0 3
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 1 0 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 1 0 1 0 0 0 2
Narges Medical Genetic and Prenatal Diagnosis Lab 0 1 1 0 0 0 2
Mendelics 0 0 0 0 1 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 0 1 0 0 0 1
Genetics Department, University Hospital of Toulouse 0 0 1 0 0 0 1
Breda Genetics srl 1 0 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 1 0 0 0 0 1
Kids Neuroscience Centre, Sydney Children's Hospitals Network 1 0 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1

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