Variants studied for primary ciliary dyskinesia 19

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	not provided	total
29	6	89	69	13	5	193

Gene and significance breakdown #

Total genes and gene combinations: 1

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
DNAAF11	29	6	89	69	13	5	193

Submitter and significance breakdown #

Total submitters: 16

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Labcorp Genetics (formerly Invitae), Labcorp	25	4	65	68	13	0	175
Illumina Laboratory Services, Illumina	0	1	28	1	2	0	32
OMIM	7	0	0	0	0	0	7
GeneReviews	0	0	0	0	0	5	5
Fulgent Genetics, Fulgent Genetics	1	0	2	0	0	0	3
Revvity Omics, Revvity	0	0	2	0	0	0	2
Juno Genomics, Hangzhou Juno Genomics, Inc	1	1	0	0	0	0	2
Genome-Nilou Lab	0	0	0	0	2	0	2
Baylor Genetics	0	0	1	0	0	0	1
Columbia University Laboratory of Personalized Genomic Medicine, Columbia University Medical Center	0	1	0	0	0	0	1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	0	0	1	0	0	0	1
Hadassah Hebrew University Medical Center	1	0	0	0	0	0	1
Centre for Mendelian Genomics, University Medical Centre Ljubljana	1	0	0	0	0	0	1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	0	0	0	0	1	0	1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	0	0	0	0	1	0	1
3billion	1	0	0	0	0	0	1

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