Variants studied for Primary ciliary dyskinesia 13

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
10	2	76	17	26	123

Gene and significance breakdown #

Total genes and gene combinations: 3

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
DNAAF1	10	2	73	16	24	117
DNAAF1, TAF1C	0	0	1	1	2	4
DNAAF1, LOC130059566	0	0	2	0	0	2

Submitter and significance breakdown #

Total submitters: 18

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Illumina Laboratory Services, Illumina	0	0	56	10	20	86
Fulgent Genetics, Fulgent Genetics	0	2	11	4	0	17
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	0	0	2	3	9	14
OMIM	5	0	0	0	0	5
Genome-Nilou Lab	0	0	0	0	5	5
Revvity Omics, Revvity	0	0	4	0	0	4
Johns Hopkins Genomics, Johns Hopkins University	0	0	4	0	0	4
Baylor Genetics	0	0	3	0	0	3
GeneReviews	3	0	0	0	0	3
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	1	0	2	0	0	3
MGZ Medical Genetics Center	1	0	1	0	0	2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	0	0	0	0	2	2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	0	0	0	0	2	2
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital	2	0	0	0	0	2
Mendelics	0	0	0	0	1	1
Mayo Clinic Laboratories, Mayo Clinic	0	0	1	0	0	1
Department of Pathology and Laboratory Medicine, Sinai Health System	1	0	0	0	0	1
3billion	1	0	0	0	0	1

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