Variants in gene TASP1 - 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
2	3	28	8	8	48

Condition and significance breakdown #

Total conditions: 6

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Condition	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Inborn genetic diseases	0	0	21	1	0	22
TASP1-related disorder	0	0	1	5	8	14
Suleiman-El-Hattab syndrome	2	3	6	0	0	10
not provided	0	0	3	2	0	5
Global developmental delay	1	0	0	0	0	1
Global developmental delay; Abnormal facial shape; Happy demeanor	1	0	0	0	0	1

Submitter and significance breakdown #

Total submitters: 15

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Ambry Genetics	0	0	21	1	0	22
PreventionGenetics, part of Exact Sciences	0	0	1	5	8	14
OMIM	2	0	1	0	0	3
CeGaT Center for Human Genetics Tuebingen	0	0	0	2	0	2
MVZ Medizinische Genetik Mainz	0	0	2	0	0	2
Baylor Genetics	0	0	1	0	0	1
Institute of Human Genetics, University of Goettingen	0	0	1	0	0	1
GeneDx	0	0	1	0	0	1
Revvity Omics, Revvity	0	0	1	0	0	1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	0	1	0	0	0	1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	1	1	0	0	0	1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München	1	0	0	0	0	1
Department of Medical Genetics, Gazi University	0	1	0	0	0	1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	0	0	1	0	0	1
Breakthrough Genomics, Breakthrough Genomics	0	0	1	0	0	1

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