Variants studied for Triglyceride storage disease with ichthyosis

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
16	7	93	7	24	147

Gene and significance breakdown #

Total genes and gene combinations: 3

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
ABHD5	14	6	83	4	22	129
ABHD5, ANO10	2	0	10	3	2	17
ABHD5, ANO10, LOC129936580	0	1	0	0	0	1

Submitter and significance breakdown #

Total submitters: 15

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Illumina Laboratory Services, Illumina	0	0	90	7	24	121
OMIM	11	0	0	0	0	11
Revvity Omics, Revvity	0	1	1	0	0	2
Miami Human Genetics, University Of Miami Miller School Of Medicine	0	2	0	0	0	2
Elsea Laboratory, Baylor College of Medicine	1	0	0	0	0	1
Centogene AG - the Rare Disease Company	0	1	0	0	0	1
Genomic Research Center, Shahid Beheshti University of Medical Sciences	0	0	1	0	0	1
University of Washington Center for Mendelian Genomics, University of Washington	0	1	0	0	0	1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS	1	0	0	0	0	1
Genetics and Molecular Pathology, SA Pathology	1	0	0	0	0	1
Laboratory of Cellular Biochemistry and Molecular Biology, Catholic University	1	0	0	0	0	1
Pediatrics Genetics, Post Graduate Institute of Medical Education and Research	1	0	0	0	0	1
3billion, Medical Genetics	0	0	1	0	0	1
Neuberg Centre For Genomic Medicine, NCGM	0	1	0	0	0	1
Shanghai Public Health Clinical Center	0	1	0	0	0	1

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