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)
		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
4	4	42	2	3	1	55

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	4	42	2	3	1	53
BRME1, CC2D1A	1	0	0	0	0	0	1
CC2D1A, LOC129391070	1	0	0	0	0	0	1

Submitter and significance breakdown #

Total submitters: 21

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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
Revvity Omics, Revvity	1	1	11	0	0	0	13
Fulgent Genetics, Fulgent Genetics	0	0	5	1	1	0	7
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
Centogene AG - the Rare Disease Company	0	0	2	0	0	0	2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	1	1	0	0	0	0	2
Centre for Mendelian Genomics, University Medical Centre Ljubljana	0	0	2	0	0	0	2
Daryl Scott Lab, Baylor College of Medicine	0	0	1	1	0	0	2
Institute of Human Genetics, University of Leipzig Medical Center	1	1	0	0	0	0	2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City	1	0	1	0	0	0	2
New York Genome Center	0	0	2	0	0	0	2
Genome-Nilou Lab	0	0	0	0	2	0	2
OMIM	1	0	0	0	0	0	1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	0	1	0	0	0	0	1
Knight Diagnostic Laboratories, Oregon Health and Sciences University	0	0	1	0	0	0	1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	0	0	1	0	0	0	1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	0	0	1	0	0	0	1
Neuberg Centre For Genomic Medicine, NCGM	0	0	1	0	0	0	1
GenomeConnect - Brain Gene Registry	0	0	0	0	0	1	1
MVZ Medizinische Genetik Mainz	0	0	1	0	0	0	1

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