Variants studied for Cranioectodermal dysplasia 1

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
37	15	258	239	45	6	556

Gene and significance breakdown #

Total genes and gene combinations: 5

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
IFT122	36	15	247	230	42	5	535
IFT122, LOC126806810	0	0	6	7	2	0	13
IFT122, LOC129937552	1	0	3	2	1	1	6
IFT122, MBD4	0	0	1	0	0	0	1
IFT122, MBD4, RHO	0	0	1	0	0	0	1

Submitter and significance breakdown #

Total submitters: 19

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Invitae	25	6	192	225	43	0	491
Illumina Laboratory Services, Illumina	0	0	68	8	14	0	90
Fulgent Genetics, Fulgent Genetics	1	4	56	22	2	0	85
OMIM	10	0	0	0	0	0	10
Revvity Omics, Revvity	1	0	5	0	0	0	6
GeneReviews	0	0	0	0	0	6	6
Genome-Nilou Lab	0	0	0	0	5	0	5
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	1	1	1	0	0	0	3
Mendelics	0	2	0	0	0	0	2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	0	2	0	0	0	2
Molecular Biology Laboratory, Fundació Puigvert	0	2	0	0	0	0	2
Baylor Genetics	0	0	1	0	0	0	1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	1	0	0	0	0	0	1
Department of Medical Genetics, Oslo University Hospital	0	1	0	0	0	0	1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne	0	1	0	0	0	0	1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	0	0	0	0	1	0	1
Neuberg Centre For Genomic Medicine, NCGM	0	0	1	0	0	0	1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS)	0	0	0	1	0	0	1
MVZ Medizinische Genetik Mainz	0	0	1	0	0	0	1

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