ClinVar Miner

Variants studied for autosomal recessive multiple pterygium syndrome

Included ClinVar conditions (4):
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
27 12 83 12 31 1 159

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CHRNG 18 9 38 1 2 0 65
CHRNG, TIGD1 2 1 36 3 3 1 45
MYH3 7 2 3 2 22 0 35
CHRND 0 0 3 2 0 0 5
CHRND, CHRNG 0 0 1 4 2 0 5
CHRNA1 0 0 2 0 2 0 4

Submitter and significance breakdown #

Total submitters: 28
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 0 0 75 10 8 0 91
Genome-Nilou Lab 0 0 0 0 22 0 22
OMIM 13 0 0 0 0 0 13
Fulgent Genetics, Fulgent Genetics 2 1 5 2 1 0 11
Baylor Genetics 3 0 1 0 0 0 4
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 3 0 1 0 0 0 4
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 2 2 0 0 0 0 4
Centre for Mendelian Genomics, University Medical Centre Ljubljana 3 0 1 0 0 0 4
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 3 1 0 0 0 0 4
Division of Genetics, Dept of Pediatrics, All India Institute of Medical Sciences 2 0 1 0 0 0 3
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 1 1 0 0 0 0 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 2 0 0 0 0 2
Duke University Health System Sequencing Clinic, Duke University Health System 1 1 0 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 2 0 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 0 0 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 1 0 0 0 0 2
Joe DiMaggio Children's Hospital, Memorial Healthcare System 2 0 0 0 0 0 2
Provincial Medical Genetics Program of British Columbia, University of British Columbia 0 0 2 0 0 0 2
Centogene AG - the Rare Disease Company 0 1 0 0 0 0 1
Mendelics 0 0 0 0 1 0 1
Mayo Clinic Laboratories, Mayo Clinic 1 0 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 1 0 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 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
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 1 0 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 0 0 1 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 1

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