Variants studied for Wolman 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	total
68	45	136	270	17	516

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
LIPA	68	45	131	270	17	511
LIPA, LOC130004300	0	0	4	0	0	4
IFIT1, IFIT1B, IFIT2, IFIT3, IFIT5, LIPA, SLC16A12	0	0	1	0	0	1

Submitter and significance breakdown #

Total submitters: 11

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Labcorp Genetics (formerly Invitae), Labcorp	66	20	96	266	16	464
Illumina Laboratory Services, Illumina	0	0	42	4	3	49
Fulgent Genetics, Fulgent Genetics	6	18	0	0	0	24
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	6	8	0	0	0	14
OMIM	5	0	0	0	0	5
Medical Molecular Genetics Department, National Research Center	0	1	1	0	0	2
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center	0	1	0	0	0	1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	1	0	0	0	0	1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota	1	0	0	0	0	1
Suma Genomics	0	1	0	0	0	1
Payam Genetics Center, General Welfare Department of North Khorasan Province	1	0	0	0	0	1

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