Variants studied for Niemann-Pick disease, type B; Niemann-Pick disease, type A

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
172	113	91	396	40	797

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
SMPD1	159	113	88	376	38	760
LOC130005193, SMPD1	11	0	3	20	2	35
APBB1, SMPD1	2	0	0	0	0	2

Submitter and significance breakdown #

Total submitters: 9

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Invitae	159	72	81	396	40	748
Huiwen Zhang's lab, Shanghai Jiao Tong University School of Medicine, Xinhua Hospital	13	27	1	0	0	41
Fulgent Genetics, Fulgent Genetics	9	5	10	1	1	26
Myriad Genetics, Inc.	0	8	4	0	0	12
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS	1	5	0	0	0	6
Centogene AG - the Rare Disease Company	5	0	0	0	0	5
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics	4	0	0	0	0	4
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence,	0	0	1	0	0	1
New York Genome Center	0	0	1	0	0	1

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