ClinVar Miner

Variants in gene combination CHRNG, TIGD1

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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
9 9 61 83 15 1 159

Condition and significance breakdown #

Total conditions: 8
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 7 3 13 78 13 0 111
Autosomal recessive multiple pterygium syndrome 2 1 35 3 3 0 44
Lethal multiple pterygium syndrome 1 0 30 0 6 0 37
Inborn genetic diseases 0 0 20 2 0 0 22
Autosomal recessive multiple pterygium syndrome; Lethal multiple pterygium syndrome 0 5 3 0 0 1 8
CHRNG-related disorder 0 0 0 3 1 0 4
not specified 0 0 2 1 1 0 4
CHRNG-associated hypo-akinesia disorder of prenatal onset 0 0 1 1 0 0 2

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 7 3 1 72 6 0 89
Illumina Laboratory Services, Illumina 0 0 35 3 6 0 41
Ambry Genetics 0 0 20 2 0 0 22
GeneDx 1 0 1 5 7 0 14
Breakthrough Genomics, Breakthrough Genomics 0 0 4 4 4 0 12
Fulgent Genetics, Fulgent Genetics 0 5 3 0 0 0 8
PreventionGenetics, part of Exact Sciences 0 0 0 3 2 0 5
Eurofins Ntd Llc (ga) 0 0 3 1 1 0 5
Revvity Omics, Revvity 0 0 3 0 0 0 3
CeGaT Center for Human Genetics Tuebingen 0 0 2 0 1 0 3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 2 0 0 0 2
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 1 1 0 0 2
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 1 0 0 2
OMIM 1 0 0 0 0 0 1
Institute of Human Genetics, Cologne University 1 0 0 0 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 1 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 1

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