Variants studied for GATA6-related congenital heart disease with or without pancreatic agenesis or neonatal diabetes

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
13	2	287	199	18	511

Gene and significance breakdown #

Total genes and gene combinations: 2

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
GATA6	13	2	286	199	18	510
GATA6, MIB1, MIR1-2, MIR133A1	0	0	1	0	0	1

Submitter and significance breakdown #

Total submitters: 11

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Labcorp Genetics (formerly Invitae), Labcorp	11	0	278	198	17	504
Fulgent Genetics, Fulgent Genetics	0	1	8	3	0	12
OMIM	2	0	0	0	0	2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	0	2	0	0	2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	0	0	2	0	0	2
Mendelics	0	0	0	0	1	1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology	0	0	1	0	0	1
Reproductive Health Research and Development, BGI Genomics	0	1	0	0	0	1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	0	0	1	0	0	1
MVZ Medizinische Genetik Mainz	0	0	1	0	0	1
Fetal and Placental Pathology Unit, Hospital Habib Bougatfa	0	0	1	0	0	1

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