ClinVar Miner

Variants studied for central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease

Included ClinVar conditions (7):
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
30 10 442 297 34 802

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 total
PHOX2B 19 7 396 256 24 697
LOC110011216, PHOX2B 9 2 30 41 9 85
RET 2 1 11 0 0 14
ASCL1, PAH 0 0 3 0 1 4
BDNF 0 0 1 0 0 1
EDN3 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 21
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 10 2 396 288 16 712
Illumina Laboratory Services, Illumina 0 0 29 8 23 60
Fulgent Genetics, Fulgent Genetics 3 1 13 3 0 20
OMIM 7 0 6 0 0 13
Baylor Genetics 2 0 4 0 0 6
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
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 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
Mendelics 1 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 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
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
Medizinische Genetik Mainz, Limbach Genetics GmbH 0 1 0 0 0 1

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