Variants studied for X-linked intellectual disability, van Esch type

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
6	1	14	5	0	26

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	total
POLA1	6	1	14	5	26

Submitter and significance breakdown #

Total submitters: 15

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	total
Fulgent Genetics, Fulgent Genetics	0	0	2	4	6
OMIM	5	0	0	0	5
Center for Human Genetics, University of Leuven	5	0	0	0	5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	0	1	2	3
Baylor Genetics	0	0	2	0	2
MGZ Medical Genetics Center	0	0	2	0	2
Centogene AG - the Rare Disease Company	0	0	1	0	1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München	0	1	0	0	1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology	0	0	1	0	1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne	0	0	1	0	1
Genetics and Molecular Pathology, SA Pathology	0	0	1	0	1
Division of Medical Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi	1	0	0	0	1
New York Genome Center	0	0	1	0	1
3billion, Medical Genetics	0	0	1	0	1
Neuberg Centre For Genomic Medicine, NCGM	0	0	1	0	1

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