Variants studied for Intellectual disability, autosomal recessive 3

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)

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
4	15	45	3	3	1	70

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	not provided	total
CC2D1A	2	15	45	3	3	1	68
BRME1, CC2D1A	1	0	0	0	0	0	1
CC2D1A, LOC129391070	1	0	0	0	0	0	1

Submitter and significance breakdown #

Total submitters: 25

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Baylor Genetics	1	0	15	0	0	0	16
Fulgent Genetics, Fulgent Genetics	0	8	5	1	1	0	15
Revvity Omics, Revvity	1	2	11	0	0	0	14
Daryl Scott Lab, Baylor College of Medicine	0	0	3	1	0	0	4
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	0	0	3	0	0	0	3
Genomic Research Center, Shahid Beheshti University of Medical Sciences	0	0	3	0	0	0	3
New York Genome Center	0	0	3	0	0	0	3
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City	1	0	1	0	0	0	2
CENTOGENE GmbH and LLC - Guiding Precision Medicine	0	0	2	0	0	0	2
Centre for Mendelian Genomics, University Medical Centre Ljubljana	0	0	2	0	0	0	2
Genome-Nilou Lab	0	0	0	0	2	0	2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	1	1	0	0	0	0	2
Institute of Human Genetics, University of Leipzig Medical Center	1	1	0	0	0	0	2
3billion	0	0	0	1	0	0	1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	0	0	1	0	0	0	1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	0	0	1	0	0	0	1
First Genomix Gene Laboratory, Genetic Diagnostics Department	0	1	0	0	0	0	1
GenomeConnect - Brain Gene Registry	0	0	0	0	0	1	1
Knight Diagnostic Laboratories, Oregon Health and Sciences University	0	0	1	0	0	0	1
MVZ Medizinische Genetik Mainz	0	0	1	0	0	0	1
Neuberg Centre For Genomic Medicine, NCGM	0	0	1	0	0	0	1
OLLIN Analises Genomicas, OLLIN	0	1	0	0	0	0	1
OMIM	1	0	0	0	0	0	1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center	0	1	0	0	0	0	1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	0	1	0	0	0	0	1

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