Variants studied for Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71

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)

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
81	34	584	765	40	1502

Gene and significance breakdown #

Total genes and gene combinations: 5

Download table as spreadsheet

Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
IFT172	52	26	421	559	25	1081
IFT172, KRTCAP3	11	6	69	90	7	183
IFT172, LOC126806173	11	2	65	67	6	151
IFT172, LOC126806174	7	0	28	49	2	86
FNDC4, GCKR, IFT172	0	0	1	0	0	1

Submitter and significance breakdown #

Total submitters: 3

Download table as spreadsheet

Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Labcorp Genetics (formerly Invitae), Labcorp	81	34	581	765	40	1501
New York Genome Center	0	0	5	0	0	5
Fulgent Genetics, Fulgent Genetics	1	0	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. The submitted information has not been verified. If you have questions about the information contained on this website, please see a health care professional.