Variants studied for congenital bile acid synthesis defect 2

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
9	7	73	11	20	115

Gene and significance breakdown #

Total genes and gene combinations: 1

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
AKR1D1	9	7	73	11	20	115

Submitter and significance breakdown #

Total submitters: 13

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Illumina Laboratory Services, Illumina	0	0	64	11	20	95
OMIM	5	0	0	0	0	5
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	1	2	1	0	0	4
Baylor Genetics	0	0	3	0	0	3
Neuberg Centre For Genomic Medicine, NCGM	0	1	2	0	0	3
Revvity Omics, Revvity	0	1	1	0	0	2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	1	1	0	0	0	2
Genomic Research Center, Shahid Beheshti University of Medical Sciences	2	0	0	0	0	2
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital	0	0	1	0	0	1
Centre for Inherited Metabolic Diseases, Karolinska University Hospital	0	1	0	0	0	1
Mendelics	0	1	0	0	0	1
Fulgent Genetics, Fulgent Genetics	0	1	0	0	0	1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City	0	0	1	0	0	1

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