Variants studied for Usher syndrome type 2A; Retinitis pigmentosa 39

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
137	292	281	56	8	2	743

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	not provided	total
USH2A	133	289	272	55	8	2	726
LOC122152296, USH2A	4	3	8	1	0	0	16
KCTD3, USH2A	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
Counsyl	50	152	211	31	0	0	444
Fulgent Genetics, Fulgent Genetics	102	153	83	26	8	0	372
Juno Genomics, Hangzhou Juno Genomics, Inc	10	0	1	0	0	0	11
Department of Genetics, Suzhou Beikang Medical Laboratory	0	3	0	0	0	0	3
Center of Genomic medicine, Geneva, University Hospital of Geneva	0	0	2	0	0	0	2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	1	0	1	0	0	0	2
GenomeConnect - Invitae Patient Insights Network	0	0	0	0	0	2	2
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn	0	0	2	0	0	0	2
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center	0	0	1	0	0	0	1
Clinical Genomics Laboratory, Washington University in St. Louis	0	0	1	0	0	0	1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System	0	0	1	0	0	0	1

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