Variants studied for Ichthyosis prematurity syndrome

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
15	16	6	0	0	1	35

Gene and significance breakdown #

Total genes and gene combinations: 1

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	not provided	total
SLC27A4	15	16	6	1	35

Submitter and significance breakdown #

Total submitters: 12

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Submitter	pathogenic	likely pathogenic	uncertain significance	not provided	total
Fulgent Genetics, Fulgent Genetics	2	10	0	0	12
OMIM	11	0	0	0	11
Revvity Omics, Revvity	1	0	2	0	3
Mendelics	2	1	0	0	3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	1	1	0	0	2
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology	0	2	0	0	2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego	1	1	0	0	2
Neuberg Centre For Genomic Medicine, NCGM	0	0	2	0	2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	0	0	1	0	1
Center for Molecular Medicine, Children’s Hospital of Fudan University	0	1	0	0	1
GenomeConnect, ClinGen	0	0	0	1	1
Royal Medical Services, Bahrain Defence Force Hospital	0	0	1	0	1

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