Variants studied for Congenital central hypoventilation

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		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
15	3	41	9	23	89

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	8	3	31	7	21	68
LOC110011216, PHOX2B	7	0	4	2	2	15
ASCL1, PAH	0	0	2	0	0	2
RET	0	0	2	0	0	2
BDNF	0	0	1	0	0	1
EDN3	0	0	1	0	0	1

Submitter and significance breakdown #

Total submitters: 14

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Illumina Laboratory Services, Illumina	0	0	29	8	23	60
OMIM	7	0	5	0	0	12
Baylor Genetics	1	0	4	0	0	5
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	2	0	0	0	0	2
Labcorp Genetics (formerly Invitae), Labcorp	0	0	1	1	0	2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology	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
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
The Laboratory of Genetics and Metabolism, Hunan Children’s Hospital	0	0	1	0	0	1
3billion	0	1	0	0	0	1

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