Variants studied for formiminoglutamic aciduria

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
11	4	98	100	38	1	245

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	11	4	94	90	35	1	229
COL6A2, FTCD	0	0	4	10	3	0	16

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	8	3	87	90	35	0	223
Illumina Laboratory Services, Illumina	0	0	10	10	3	0	23
OMIM	6	0	0	0	0	0	6
Fulgent Genetics, Fulgent Genetics	1	0	5	0	0	0	6
Baylor Genetics	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
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	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
GenomeConnect - Brain Gene Registry	0	0	0	0	0	1	1

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