Variants studied for Vici syndrome

Minimum submission review status:		Collection method:
Minimum conflict level:
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
28	13	50	16	31	131

Gene and significance breakdown #

Total genes and gene combinations: 1

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
EPG5	28	13	50	16	31	131

Submitter and significance breakdown #

Total submitters: 15

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Invitae	8	2	36	16	30	92
SIB Swiss Institute of Bioinformatics	5	11	6	0	0	22
OMIM	8	0	0	0	0	8
Department of Pediatrics and Neonatology,Nagoya City University Graduate School of Medical Sciences	7	0	0	0	0	7
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	0	0	5	0	0	5
Institute of Human Genetics,Klinikum rechts der Isar	3	0	0	0	0	3
Genome Diagnostics Laboratory,University Medical Center Utrecht	0	0	0	0	2	2
Department of Genetics,Sultan Qaboos University Hospital, Oman	1	0	1	0	0	2
Genetic Services Laboratory, University of Chicago	1	0	0	0	0	1
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine	1	0	0	0	0	1
Fulgent Genetics	0	0	1	0	0	1
Genomic Research Center,Shahid Beheshti University of Medical Sciences	0	0	1	0	0	1
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics	0	1	0	0	0	1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare	0	0	1	0	0	1
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center	0	0	0	0	1	1

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