Variants studied for GATA1-Related X-Linked Cytopenia

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	not provided	total
37	7	123	72	45	11	282

Gene and significance breakdown #

Total genes and gene combinations: 3

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
GATA1	36	7	121	70	43	11	275
GATA1, LOC119407405	0	0	1	2	2	0	5
GATA1, GLOD5, SUV39H1, WAS	1	0	1	0	0	0	2

Submitter and significance breakdown #

Total submitters: 13

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Labcorp Genetics (formerly Invitae), Labcorp	32	2	119	70	45	0	268
GeneReviews	0	0	0	0	0	11	11
Fulgent Genetics, Fulgent Genetics	0	1	3	2	0	0	6
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology	3	2	1	0	0	0	6
OMIM	5	0	0	0	0	0	5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	2	0	1	0	0	0	3
Baylor Genetics	0	0	1	0	0	0	1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	0	1	0	0	0	0	1
Genetics and Molecular Pathology, SA Pathology	0	0	1	0	0	0	1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas	1	0	0	0	0	0	1
Neuberg Centre For Genomic Medicine, NCGM	0	1	0	0	0	0	1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	1	0	0	0	0	0	1
Institute for Clinical Chemistry and Laboratory Medicine, University Medical Center Mainz	1	0	0	0	0	0	1

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