Variants studied for 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)
		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
70	37	630	585	40	1	1327

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
IFT172	43	26	457	421	26	0	951
IFT172, KRTCAP3	12	7	74	68	7	0	161
IFT172, LOC126806173	9	3	68	56	5	1	138
IFT172, LOC126806174	6	1	30	40	2	0	76
FNDC4, GCKR, IFT172	0	0	1	0	0	0	1

Submitter and significance breakdown #

Total submitters: 11

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Labcorp Genetics (formerly Invitae), Labcorp	66	30	610	572	38	0	1316
Fulgent Genetics, Fulgent Genetics	5	7	132	60	0	0	204
New York Genome Center	0	0	12	0	0	0	12
Genome-Nilou Lab	0	0	0	0	4	0	4
OMIM	3	0	0	0	0	0	3
Ocular Genomics Institute, Massachusetts Eye and Ear	0	1	2	0	0	0	3
Baylor Genetics	0	0	1	0	0	0	1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	0	1	0	0	0	1
Moosajee Lab, UCL Institute of Ophthalmology	0	0	1	0	0	0	1
GenomeConnect - Invitae Patient Insights Network	0	0	0	0	0	1	1
DBGen Ocular Genomics	0	0	1	0	0	0	1

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