ClinVar Miner

Variants studied for Autosomal recessive multiple pterygium syndrome

Coded as:
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 total
20 10 78 10 9 122

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
CHRNG 18 9 37 1 2 64
CHRNG, TIGD1 2 1 35 3 3 44
CHRND 0 0 3 2 0 5
CHRND, CHRNG 0 0 1 4 2 5
CHRNA1 0 0 2 0 2 4

Submitter and significance breakdown #

Total submitters: 20
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 0 0 75 10 8 91
OMIM 9 0 0 0 0 9
Baylor Genetics 3 0 1 0 0 4
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 3 0 1 0 0 4
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 2 2 0 0 0 4
Centre for Mendelian Genomics, University Medical Centre Ljubljana 3 0 1 0 0 4
Division of Genetics, Dept of Pediatrics, All India Institute of Medical Sciences 2 0 1 0 0 3
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 2 1 0 0 0 3
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 1 1 0 0 0 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 2 0 0 0 2
Duke University Health System Sequencing Clinic, Duke University Health System 1 1 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 0 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 1 0 0 0 2
Centogene AG - the Rare Disease Company 0 1 0 0 0 1
Mendelics 0 0 0 0 1 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 1 0 0 0 0 1
HUSP Clinical Genetics Laboratory, Hospital Universitario San Pedro De Logroño (HUSP) 0 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 1

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