Variants in gene TSEN15 - 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
3	2	17	9	9	37

Condition and significance breakdown #

Total conditions: 6

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Condition	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
not provided	0	0	1	8	9	18
Inborn genetic diseases	0	0	14	0	0	14
Pontocerebellar hypoplasia, type 2F	3	1	2	0	0	4
not specified	0	0	0	0	2	2
Global developmental delay; Seizure; Primary microcephaly	0	1	0	0	0	1
TSEN15-related disorder	0	0	0	1	0	1

Submitter and significance breakdown #

Total submitters: 11

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
GeneDx	0	0	0	6	9	15
Ambry Genetics	0	0	14	0	0	14
Breakthrough Genomics, Breakthrough Genomics	0	0	0	1	4	5
OMIM	3	0	0	0	0	3
CeGaT Center for Human Genetics Tuebingen	0	0	1	2	0	3
Clinical Genetics, Academic Medical Center	0	0	0	0	2	2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	0	0	0	0	2	2
PreventionGenetics, part of Exact Sciences	0	0	0	1	0	1
Fulgent Genetics, Fulgent Genetics	0	0	1	0	0	1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	0	1	1	0	0	1
Institute of Human Genetics, University of Leipzig Medical Center	0	1	0	0	0	1

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