Variants studied for Papillon-Lefevre 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
68	14	156	187	22	427

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
CTSC	61	13	133	157	21	369
CTSC, LOC130006572	7	1	22	30	1	57
CTSC, GRM5, TYR	0	0	1	0	0	1

Submitter and significance breakdown #

Total submitters: 15

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Invitae	57	10	122	183	17	389
Illumina Laboratory Services, Illumina	0	0	36	5	7	48
OMIM	12	0	0	0	0	12
Fulgent Genetics, Fulgent Genetics	1	1	5	0	1	8
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	2	1	0	0	0	3
State Key Laboratory Of Oral Diseases, Sichuan University	2	0	0	0	0	2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	1	0	1	0	0	2
Baylor Genetics	1	0	0	0	0	1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	0	1	0	0	0	1
Medical Molecular Genetics Department, National Research Center	1	0	0	0	0	1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	0	0	1	0	0	1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University	0	0	1	0	0	1
Faculty of Allied and Health Sciences, Imperial College of Business Studies	1	0	0	0	0	1
3billion	1	0	0	0	0	1
Medical Genetics Research Center, Mashhad University of Medical Sciences	0	1	0	0	0	1

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