Variants studied for familial pityriasis rubra pilaris

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	association	not provided	total
6	3	620	429	93	2	1	1136

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	association	not provided	total
CARD14	6	2	385	266	51	1	1	702
CARD14, SGSH	0	0	170	120	32	0	0	316
CARD14, LOC126862662, SGSH	0	1	62	43	10	1	0	115
CARD14, CCDC40, EIF4A3, GAA	0	0	2	0	0	0	0	2
C1QTNF1, CANT1, CARD14, CBX2, CBX4, CBX8, CCDC40, EIF4A3, ENGASE, ENPP7, GAA, LGALS3BP, RBFOX3, RNF213, SGSH, SLC26A11, TBC1D16, TIMP2	0	0	1	0	0	0	0	1

Submitter and significance breakdown #

Total submitters: 14

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	association	not provided	total
Labcorp Genetics (formerly Invitae), Labcorp	5	2	608	425	86	0	0	1126
Genome-Nilou Lab	0	0	0	0	12	0	0	12
Fulgent Genetics, Fulgent Genetics	0	0	5	4	1	0	0	10
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic	0	1	5	0	0	2	0	8
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	0	0	3	1	0	0	0	4
OMIM	3	0	0	0	0	0	0	3
Mendelics	0	0	0	0	1	0	0	1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	0	1	0	0	0	0	1
Clinical Genomics Laboratory, Washington University in St. Louis	0	0	1	0	0	0	0	1
Centre for Mendelian Genomics, University Medical Centre Ljubljana	0	0	1	0	0	0	0	1
Institute of Human Genetics, University of Leipzig Medical Center	0	0	1	0	0	0	0	1
New York Genome Center	0	0	1	0	0	0	0	1
3billion, Medical Genetics	0	0	1	0	0	0	0	1
GenomeConnect - Invitae Patient Insights Network	0	0	0	0	0	0	1	1

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