Variants studied for chylomicron retention disease

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	not provided	total
10	4	1	0	2	2	16

Gene and significance breakdown #

Total genes and gene combinations: 2

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	benign	not provided	total
SAR1B	9	4	1	2	2	15
DCDC2	1	0	0	0	0	1

Submitter and significance breakdown #

Total submitters: 12

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Submitter	pathogenic	likely pathogenic	uncertain significance	benign	not provided	total
OMIM	8	0	0	0	0	8
Revvity Omics, Revvity	0	2	0	0	0	2
GeneReviews	0	0	0	0	2	2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens	1	1	0	0	0	2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	0	1	0	0	0	1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	1	0	0	0	1
Fulgent Genetics, Fulgent Genetics	0	0	0	1	0	1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	1	0	0	0	0	1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	0	0	1	0	0	1
Genome-Nilou Lab	0	0	0	1	0	1
Neuberg Centre For Genomic Medicine, NCGM	1	0	0	0	0	1
Molecular Genetics, Royal Melbourne Hospital	0	0	0	1	0	1

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