Variants studied for Rotor syndrome

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
11	1	180	38	54	264

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
SLCO1B3, SLCO1B3-SLCO1B7	5	0	100	19	23	135
SLCO1B1	3	0	77	18	28	118
SLCO1B3	2	0	3	1	3	9
SLCO1B1, SLCO1B3, SLCO1B7	1	1	0	0	0	2

Submitter and significance breakdown #

Total submitters: 16

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Illumina Laboratory Services, Illumina	1	0	118	15	48	182
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	6	0	34	28	23	91
Revvity Omics, Revvity	0	0	32	0	0	32
Genome-Nilou Lab	0	0	0	0	9	9
OMIM	5	0	0	0	0	5
Baylor Genetics	1	0	4	0	0	5
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	0	0	0	0	4	4
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	3	0	0	0	0	3
3billion	3	0	0	0	0	3
Mendelics	1	0	1	0	0	2
Centogene AG - the Rare Disease Company	0	0	1	0	0	1
Department of Molecular and Human Genetics, Baylor College of Medicine	1	0	0	0	0	1
Department of Traditional Chinese Medicine, Fujian Provincial Hospital	1	0	0	0	0	1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens	0	1	0	0	0	1
Liver Center, Tokai University School of Medicine	1	0	0	0	0	1
Neuberg Centre For Genomic Medicine, NCGM	0	0	1	0	0	1

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