Variants studied for Sphingolipid activator protein 1 deficiency

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
44	25	253	440	34	773

Gene and significance breakdown #

Total genes and gene combinations: 3

Download table as spreadsheet

Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
PSAP	44	25	248	440	31	765
CDH23, PSAP	0	0	4	0	3	7
ASCC1, CDH23, CHST3, PSAP, SPOCK2, VSIR	0	0	1	0	0	1

Submitter and significance breakdown #

Total submitters: 15

Download table as spreadsheet

Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Invitae	36	22	211	433	25	727
Illumina Laboratory Services, Illumina	0	0	54	5	9	68
Genome-Nilou Lab	0	0	0	2	9	11
OMIM	7	0	0	0	0	7
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics	1	2	0	0	0	3
Institute of Experimental Endocrinology, Slovak Academy of Sciences	1	1	0	0	0	2
Mendelics	1	0	0	0	0	1
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences	1	0	0	0	0	1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India	1	0	0	0	0	1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City	1	0	0	0	0	1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	0	0	1	0	0	1
Pathology and Clinical Laboratory Medicine, King Fahad Medical City	1	0	0	0	0	1
3billion	1	0	0	0	0	1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	0	1	0	0	0	1
Neuberg Centre For Genomic Medicine, NCGM	0	1	0	0	0	1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.