Variants studied for Sphingomyelin/cholesterol lipidosis

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
40	32	34	12	1	11	121

Gene and significance breakdown #

Total genes and gene combinations: 5

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
SMPD1	34	31	31	12	1	9	111
LOC130005193, SMPD1	1	0	3	0	0	0	4
NPC1	2	1	0	0	0	0	3
APBB1, SMPD1	2	0	0	0	0	2	2
NPC2	1	0	0	0	0	0	1

Submitter and significance breakdown #

Total submitters: 7

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	25	11	11	7	0	0	54
Natera, Inc.	3	1	26	5	1	0	36
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	14	18	0	0	0	0	32
GeneReviews	0	0	0	0	0	11	11
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego	2	1	0	0	0	0	3
Illumina Laboratory Services, Illumina	0	0	2	0	0	0	2
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital	1	1	0	0	0	0	2

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