ClinVar Miner

Variants studied for central hypoventilation syndrome, congenital

Included ClinVar conditions (9):
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
33 11 452 301 35 820

Gene and significance breakdown #

Total genes and gene combinations: 8
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
PHOX2B 20 7 400 258 25 704
LOC110011216, PHOX2B 9 2 30 41 9 85
RET 2 1 11 0 0 14
MYO1H 1 1 5 2 0 9
ASCL1, PAH 0 0 4 0 1 5
BDNF 0 0 1 0 0 1
EDN3 0 0 1 0 0 1
LBX1 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 30
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 10 2 399 290 16 717
Illumina Laboratory Services, Illumina 0 0 29 8 23 60
Fulgent Genetics, Fulgent Genetics 3 1 20 3 0 27
OMIM 9 0 6 0 0 15
Baylor Genetics 2 0 4 0 0 6
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 0 0 0 5 5
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 3 1 0 0 0 4
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 2 0 0 0 3
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 3 0 0 3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 2 0 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 0 0 0 0 2
Suma Genomics 0 0 0 2 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 0 0 1
Revvity Omics, Revvity 0 0 1 0 0 1
Mendelics 1 0 0 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 1 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 1
Daryl Scott Lab, Baylor College of Medicine 0 1 0 0 0 1
Department of Pediatrics, Memorial Sloan Kettering Cancer Center 1 0 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 1 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 0 0 0 1
Laboratorio de Biologia Molecular - Genetica, Hospital de Pediatria Garrahan 0 1 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 1
The Laboratory of Genetics and Metabolism, Hunan Children’s Hospital 0 0 1 0 0 1
3billion 0 1 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 0 0 1 1
Arcensus 0 1 0 0 0 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 1 0 0 0 0 1
MVZ Medizinische Genetik Mainz 0 1 0 0 0 1

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