Variants studied for Primary ciliary dyskinesia 10

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
6	6	58	14	13	1	90

Gene and significance breakdown #

Total genes and gene combinations: 4

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
DNAAF2	4	5	49	12	9	1	72
DNAAF2, LOC130055542	2	1	9	1	1	0	14
DNAAF2, MGAT2	0	0	0	0	3	0	3
DNAAF2, LOC130055541	0	0	0	1	0	0	1

Submitter and significance breakdown #

Total submitters: 13

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Illumina Laboratory Services, Illumina	0	0	47	8	11	0	66
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	0	1	2	3	3	0	9
Fulgent Genetics, Fulgent Genetics	0	0	7	2	0	0	9
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	0	0	0	0	5	0	5
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	0	0	0	0	5	0	5
OMIM	4	0	0	0	0	0	4
Revvity Omics, Revvity	1	2	1	0	0	0	4
Department of Pathology and Laboratory Medicine, Sinai Health System	0	0	2	1	0	0	3
Baylor Genetics	1	0	1	0	0	0	2
Mendelics	0	1	0	0	0	0	1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues	0	1	0	0	0	0	1
GenomeConnect - Invitae Patient Insights Network	0	0	0	0	0	1	1
Neuberg Centre For Genomic Medicine, NCGM	0	1	0	0	0	0	1

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