ClinVar Miner

Variants in gene CHN1

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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
11 3 79 12 10 2 110

Condition and significance breakdown #

Total conditions: 8
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Duane retraction syndrome 2 10 0 39 3 4 0 55
Inborn genetic diseases 0 0 29 0 0 0 29
not provided 0 2 12 6 9 1 29
Duane retraction syndrome 0 0 3 2 0 0 5
CHN1-related disorder 0 0 1 2 0 0 3
Autosomal dominant Robinow syndrome 2 1 0 0 0 0 0 1
Duane syndrome type 1 0 0 0 0 0 1 1
Oromandibular-limb hypogenesis spectrum 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 0 0 36 5 4 0 45
Ambry Genetics 0 0 29 0 0 0 29
Labcorp Genetics (formerly Invitae), Labcorp 0 0 0 6 6 0 12
OMIM 9 0 0 0 0 0 9
GeneDx 0 0 8 0 0 0 8
Breakthrough Genomics, Breakthrough Genomics 0 0 3 0 5 0 8
PreventionGenetics, part of Exact Sciences 0 0 1 2 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 2 0 0 0 2
Revvity Omics, Revvity 0 0 1 0 0 0 1
Bionano Laboratories 0 0 1 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 0 1
Laboratoire de Génétique Moléculaire, CHU Bordeaux 1 1 0 0 0 0 1
Center for Personalized Medicine, Children's Hospital Los Angeles 0 1 0 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 0 1 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 0 1
Central Lab, Second People's Hospital of Yunnan Province 1 0 0 0 0 0 1
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 0 1 0 0 0 0 1

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