Variants in gene TOE1 - ClinVar Miner

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
10	21	67	55	10	154

Condition and significance breakdown #

Total conditions: 5

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Condition	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
not provided	5	0	50	49	10	113
Inborn genetic diseases	0	1	22	3	0	26
Pontocerebellar hypoplasia type 7	6	18	6	0	0	26
TOE1-related condition	0	2	0	7	0	9
See cases	0	1	0	0	0	1

Submitter and significance breakdown #

Total submitters: 14

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Invitae	4	0	47	49	9	109
Ambry Genetics	0	1	22	3	0	26
University of Washington Center for Mendelian Genomics, University of Washington	0	12	0	0	0	12
PreventionGenetics, part of Exact Sciences	0	2	0	7	0	9
GeneDx	2	0	4	0	2	8
OMIM	6	0	0	0	0	6
Baylor Genetics	0	0	2	0	0	2
Revvity Omics, Revvity	0	1	1	0	0	2
Department of Medical Genetics and Molecular Diagnostic Laboratory, Shanghai Children's Medical Center	0	2	0	0	0	2
3billion	0	1	1	0	0	2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	0	1	1	0	0	2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center	0	1	0	0	0	1
Center for Comprehensive Genetic Services, Shahid Beheshti University of Medical Sciences	0	0	1	0	0	1
Centre for Mendelian Genomics, University Medical Centre Ljubljana	0	1	0	0	0	1

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