Variants studied for Primary ciliary dyskinesia 30

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
18	16	119	140	17	305

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
ODAD3	18	16	117	138	16	300
LOC130063574, ODAD3	0	0	1	2	0	3
ODAD3, PRKCSH	0	0	1	0	1	2

Submitter and significance breakdown #

Total submitters: 13

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Labcorp Genetics (formerly Invitae), Labcorp	16	8	113	137	16	290
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	0	1	2	4	6	13
Fulgent Genetics, Fulgent Genetics	0	0	5	0	0	5
Baylor Genetics	0	0	4	0	0	4
Revvity Omics, Revvity	0	1	3	0	0	4
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	0	3	1	0	0	4
OMIM	2	0	0	0	0	2
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital	2	0	0	0	0	2
Neuberg Centre For Genomic Medicine, NCGM	0	2	0	0	0	2
Genetics and Molecular Pathology, SA Pathology	0	0	0	1	0	1
Juno Genomics, Hangzhou Juno Genomics, Inc	0	1	0	0	0	1
Johns Hopkins Genomics, Johns Hopkins University	0	0	0	1	0	1
3billion	1	0	0	0	0	1

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