ClinVar Miner

Variants in gene ARNT2

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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 association total
4 1 100 87 25 2 213

Condition and significance breakdown #

Total conditions: 5
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Condition pathogenic likely pathogenic uncertain significance likely benign benign association total
not provided 3 0 56 82 24 0 163
not specified 0 0 50 0 1 0 51
Webb-Dattani syndrome 1 1 5 3 5 0 15
ARNT2-related disorder 0 0 1 6 1 0 8
Pulmonary disease, chronic obstructive, susceptibility to 0 0 0 0 0 2 2

Submitter and significance breakdown #

Total submitters: 18
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association total
Labcorp Genetics (formerly Invitae), Labcorp 3 0 52 79 21 0 155
Ambry Genetics 0 0 50 0 0 0 50
Breakthrough Genomics, Breakthrough Genomics 0 0 2 2 11 0 15
PreventionGenetics, part of Exact Sciences 0 0 1 6 1 0 8
CeGaT Center for Human Genetics Tuebingen 0 0 0 7 0 0 7
Genome-Nilou Lab 0 0 0 0 5 0 5
Fulgent Genetics, Fulgent Genetics 0 0 0 3 0 0 3
Clinical Genetics, Academic Medical Center 0 0 1 0 1 0 2
Mendelics 0 1 1 0 0 0 2
HLA Laboratory, Instituto Nacional de Enfermedades Respiratorias Ismael Cosio Villegas 0 0 0 0 0 2 2
New York Genome Center 0 0 2 0 0 0 2
OMIM 1 0 0 0 0 0 1
Baylor Genetics 0 0 1 0 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 1 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 1 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 0 1 0 0 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 1 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 0 0 0 1

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