Variants studied for Norum 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
16	4	26	2	2	49

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
LCAT	14	3	24	2	2	44
LCAT, SLC12A4	2	1	1	0	0	4
LCAT, LOC130059254	0	0	1	0	0	1

Submitter and significance breakdown #

Total submitters: 9

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Illumina Laboratory Services, Illumina	0	1	20	1	2	24
OMIM	12	0	0	0	0	12
Fulgent Genetics, Fulgent Genetics	3	2	3	2	0	10
New York Genome Center	0	0	4	0	0	4
Unidad de Genómica Médica UC, Pontificia Universidad Católica de Chile	2	0	0	0	0	2
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen	0	1	0	0	0	1
Genome-Nilou Lab	0	0	0	0	1	1
Neuberg Centre For Genomic Medicine, NCGM	0	1	0	0	0	1
MVZ Medizinische Genetik Mainz	0	0	1	0	0	1

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