Variants studied for Meckel-Gruber 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	total
11	17	42	5	7	82

Gene and significance breakdown #

Total genes and gene combinations: 28

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
CEP290	4	0	8	0	3	15
CC2D2A	3	3	6	1	0	13
NPHP3, NPHP3-ACAD11	0	0	10	0	1	11
MKS1	2	1	2	0	0	5
TMEM67	0	3	2	0	0	5
TXNDC15	1	2	1	0	0	4
RPGRIP1L	0	0	3	0	0	3
ATP6V0A2, LOC130009117, TCTN2	0	0	0	2	0	2
ATP6V0A2, TCTN2	0	0	1	0	1	2
CEP290, RLIG1	0	0	1	1	0	2
LOC129937587, NPHP3, NPHP3-ACAD11	0	0	1	0	1	2
TMEM216	0	0	1	0	1	2
B9D1	1	0	0	0	0	1
CCDC172	0	0	1	0	0	1
CEP295	0	0	1	0	0	1
CIMIP2B	0	0	1	0	0	1
CSPP1	0	1	0	0	0	1
EVC2	0	1	0	0	0	1
EXOC3L2	0	1	0	0	0	1
EXOC4, LOC101928861	0	1	0	0	0	1
FTO, RPGRIP1L	0	0	0	1	0	1
KIAA0586	0	1	0	0	0	1
LOC129937586, NPHP3, NPHP3-ACAD11	0	0	1	0	0	1
TCTN2	0	0	1	0	0	1
TMEM138	0	1	0	0	0	1
TMEM231	0	1	0	0	0	1
TMEM237	0	1	0	0	0	1
TTC6	0	0	1	0	0	1

Submitter and significance breakdown #

Total submitters: 8

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Illumina Laboratory Services, Illumina	0	0	34	5	7	46
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre	3	10	4	0	0	17
Genetic Services Laboratory, University of Chicago	4	5	3	0	0	12
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	0	2	0	0	0	2
Medical Genetic Institute of Henan Province, Henan Provincial People’s Hospital	2	0	0	0	0	2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	0	1	0	0	1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India	1	0	0	0	0	1
Rare Disease Group, Clinical Genetics, Karolinska Institutet	1	0	0	0	0	1

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