Variants studied for tyrosinemia type III

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
36	18	66	231	21	354

Gene and significance breakdown #

Total genes and gene combinations: 4

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
HPD	31	16	55	200	18	304
HPD, LOC126861662	5	1	5	31	3	43
HPD, LOC130009013	0	0	6	0	0	6
GCDH	0	1	0	0	0	1

Submitter and significance breakdown #

Total submitters: 9

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Labcorp Genetics (formerly Invitae), Labcorp	30	8	44	228	21	331
Illumina Laboratory Services, Illumina	0	0	22	1	6	29
Fulgent Genetics, Fulgent Genetics	0	6	2	3	1	12
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	1	5	0	0	0	6
OMIM	4	0	0	0	0	4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	0	1	0	0	1
Genomic Research Center, Shahid Beheshti University of Medical Sciences	1	0	0	0	0	1
Genome-Nilou Lab	0	0	0	0	1	1
3billion, Medical Genetics	1	0	0	0	0	1

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