Variants studied for THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome

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
13	11	10	0	2	4	31

Gene and significance breakdown #

Total genes and gene combinations: 2

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	benign	not provided	total
THOC6	13	10	10	2	4	30
FBN1	0	1	0	0	0	1

Submitter and significance breakdown #

Total submitters: 16

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Submitter	pathogenic	likely pathogenic	uncertain significance	benign	not provided	total
Baylor Genetics	0	3	7	0	0	10
OMIM	9	0	0	0	0	9
GeneReviews	1	0	0	0	3	4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	3	1	0	0	4
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München	4	0	0	0	0	4
Revvity Omics, Revvity	0	2	1	0	0	3
Medgenome Labs Pvt Ltd	2	0	1	0	0	3
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India	0	2	0	0	0	2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne	0	1	1	0	0	2
Sbielas Lab-Department of Human Genetics University of Michigan, University of Michigan Medical School	0	2	0	0	0	2
Genome-Nilou Lab	0	0	0	2	0	2
Neuberg Centre For Genomic Medicine, NCGM	2	0	0	0	0	2
Institute of Human Genetics, University of Leipzig Medical Center	0	0	1	0	0	1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City	0	1	0	0	0	1
Laboratory of Medical Genetics, University of Torino	0	1	0	0	0	1
GenomeConnect - Invitae Patient Insights Network	0	0	0	0	1	1

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