Variants studied for cataract 14 multiple types

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
17	35	118	9	43	201

Gene and significance breakdown #

Total genes and gene combinations: 2

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
GJA3	17	35	117	9	43	200
CRYL1, EEF1AKMT1, GJA3, GJB2, GJB6, IFT88, IL17D, XPO4	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
Illumina Laboratory Services, Illumina	0	0	61	2	39	102
Labcorp Genetics (formerly Invitae), Labcorp	8	4	32	7	11	62
Dept. Genetics and Cancer, Menzies Institute for Medical Research, University of Tasmania	2	27	27	1	0	57
OMIM	9	0	0	0	0	9
Genomics England Pilot Project, Genomics England	0	3	0	0	0	3
Fulgent Genetics, Fulgent Genetics	0	0	0	1	0	1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	1	0	0	0	0	1
Miami Human Genetics, University Of Miami Miller School Of Medicine	1	0	0	0	0	1
Laboratory of NeuroGenetics and Regenerative Medicine, University of Maryland School of Medicine	0	1	0	0	0	1
Institute of Human Genetics, University of Leipzig Medical Center	0	0	1	0	0	1
Juno Genomics, Hangzhou Juno Genomics, Inc	0	0	1	0	0	1
New York Genome Center	0	1	0	0	0	1
Genome-Nilou Lab	0	0	0	0	1	1
Molecular Genetics, Royal Melbourne Hospital	0	1	0	0	0	1
Provincial Medical Genetics Program of British Columbia, University of British Columbia	0	1	0	0	0	1

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