Variants studied for Sitosterolemia 1

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
21	6	173	8	36	236

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
ABCG8	17	5	106	3	20	145
ABCG5, DYNC2LI1	4	0	41	2	10	56
ABCG5	0	0	20	3	2	24
ABCG5, ABCG8	0	1	6	0	4	11

Submitter and significance breakdown #

Total submitters: 18

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Illumina Laboratory Services, Illumina	0	0	120	8	32	160
Revvity Omics, Revvity	6	2	44	1	0	53
New York Genome Center	0	0	12	0	0	12
Genome-Nilou Lab	0	0	0	0	12	12
OMIM	10	0	0	0	0	10
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology	5	0	5	0	0	10
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas	0	0	3	0	0	3
Neuberg Centre For Genomic Medicine, NCGM	1	1	1	0	0	3
Baylor Genetics	0	0	2	0	0	2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	2	0	0	0	0	2
Genetics and Molecular Pathology, SA Pathology	0	2	0	0	0	2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	1	0	0	0	0	1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	1	0	0	0	0	1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital	1	0	0	0	0	1
Molecular Genetics, Royal Melbourne Hospital	1	0	0	0	0	1
Arcensus	0	1	0	0	0	1
KardioGenetik, Herz- und Diabeteszentrum NRW	0	0	1	0	0	1
Amrita Institute of Medical Sciences and Research Centre, Amrita Vishwa Vidyapeetham	0	1	0	0	0	1

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