Variants studied for retinitis pigmentosa 73

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
105	52	292	580	25	1030

Gene and significance breakdown #

Total genes and gene combinations: 6

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
HGSNAT	97	47	266	508	22	917
HGSNAT, LOC130000316	7	5	21	72	3	107
HGSNAT, POMK	1	0	2	0	0	3
FNTA, HGSNAT, POMK, POTEA	0	0	1	0	0	1
HGSNAT, LOC121740716, LOC130000316, LOC130000317, LOC130000318, LOC130000319, LOC130000320, LOC130000321, POMK	0	0	1	0	0	1
HGSNAT, POTEA	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
Labcorp Genetics (formerly Invitae), Labcorp	101	27	284	578	24	1014
Fulgent Genetics, Fulgent Genetics	12	20	12	3	0	47
Inherited Eye Disorders lab, UCL Institute of Ophthalmology	3	5	0	0	0	8
Genome-Nilou Lab	0	0	1	0	3	4
OMIM	3	0	0	0	0	3
Centre for Mendelian Genomics, University Medical Centre Ljubljana	0	1	2	0	0	3
Institute of Human Genetics, University of Leipzig Medical Center	1	2	0	0	0	3
MGZ Medical Genetics Center	1	0	1	0	0	2
Genomic Research Center, Shahid Beheshti University of Medical Sciences	1	0	1	0	0	2
Juno Genomics, Hangzhou Juno Genomics, Inc	1	0	1	0	0	2
Genomics England Pilot Project, Genomics England	2	0	0	0	0	2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	0	1	0	0	0	1
Genetics and Molecular Pathology, SA Pathology	0	1	0	0	0	1
New York Genome Center	0	0	1	0	0	1
3billion, Medical Genetics	0	0	1	0	0	1

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