Variants studied for Glutamate formiminotransferase deficiency

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
15	33	96	112	40	1	285

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	not provided	total
FTCD	15	33	92	102	37	1	269
COL6A2, FTCD	0	0	4	10	3	0	16

Submitter and significance breakdown #

Total submitters: 16

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Labcorp Genetics (formerly Invitae), Labcorp	12	3	87	102	37	0	241
Fulgent Genetics, Fulgent Genetics	2	29	4	0	0	0	35
Illumina Laboratory Services, Illumina	0	0	7	10	3	0	20
OMIM	6	0	0	0	0	0	6
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	3	0	0	0	0	0	3
Baylor Genetics	1	0	1	0	0	0	2
Department of Pathology and Laboratory Medicine, Sinai Health System	1	1	0	0	0	0	2
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center	1	0	1	0	0	0	2
Genome-Nilou Lab	0	0	0	0	2	0	2
Molecular Genetics, Royal Melbourne Hospital	1	0	1	0	0	0	2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	0	1	0	0	0	0	1
Revvity Omics, Revvity	1	0	0	0	0	0	1
Mendelics	1	0	0	0	0	0	1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	0	1	0	0	0	1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	0	0	1	0	0	0	1
GenomeConnect - Brain Gene Registry	0	0	0	0	0	1	1

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