Variants studied for Porphobilinogen synthase 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	total
6	2	65	16	13	100

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
ALAD	6	2	60	11	13	90
ALAD, LOC130002419	0	0	5	5	0	10

Submitter and significance breakdown #

Total submitters: 12

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Illumina Laboratory Services, Illumina	0	0	60	15	13	88
OMIM	6	0	0	0	0	6
Revvity Omics, Revvity	0	1	1	0	0	2
Department of Pathology and Laboratory Medicine, Sinai Health System	0	0	1	0	1	2
Baylor Genetics	0	0	1	0	0	1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center	0	1	0	0	0	1
Fulgent Genetics, Fulgent Genetics	0	0	0	1	0	1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	0	1	0	0	0	1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics	0	0	1	0	0	1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare	0	0	1	0	0	1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	0	0	0	0	1	1
Pediatrics Genetics, Post Graduate Institute of Medical Education and Research	0	0	1	0	0	1

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