Variants in gene CFAP300

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	8	26	47	12	104

Condition and significance breakdown #

Total conditions: 6

Download table as spreadsheet

Condition	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
not provided	11	3	22	44	12	92
Ciliary dyskinesia, primary, 38	6	3	1	0	2	12
CFAP300-related disorder	0	2	0	3	2	7
Inborn genetic diseases	0	0	3	0	0	3
Heterotaxy	1	0	0	0	0	1
Primary ciliary dyskinesia	1	0	0	0	0	1

Submitter and significance breakdown #

Total submitters: 16

Download table as spreadsheet

Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Labcorp Genetics (formerly Invitae), Labcorp	10	3	22	44	11	90
PreventionGenetics, part of Exact Sciences	0	2	0	3	2	7
OMIM	5	0	0	0	0	5
Breakthrough Genomics, Breakthrough Genomics	0	0	0	0	4	4
Ambry Genetics	0	0	3	0	0	3
GeneDx	0	0	0	0	2	2
Genome-Nilou Lab	0	0	0	0	2	2
Fulgent Genetics, Fulgent Genetics	0	0	1	0	0	1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	1	0	0	0	0	1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München	1	0	0	0	0	1
Institute Of Molecular Biology And Genetics, Federal Almazov National Medical Research Centre	1	0	0	0	0	1
CeGaT Center for Human Genetics Tuebingen	1	0	0	0	0	1
Institute of Human Genetics, University of Wuerzburg	0	1	0	0	0	1
Pediatric Genetics Clinic, Sheba Medical Center	1	0	0	0	0	1
DASA	0	1	0	0	0	1
Department of Human Genetics, Hannover Medical School	0	1	0	0	0	1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.