Variants studied for Bardet-Biedl syndrome 14

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
138	238	125	6	22	525

Gene and significance breakdown #

Total genes and gene combinations: 4

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
CEP290	132	220	117	6	22	493
CEP290, RLIG1	4	15	6	0	0	25
CEP290, LOC129390514	2	3	1	0	0	6
TMEM67	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
Baylor Genetics	137	235	5	0	0	377
Illumina Laboratory Services, Illumina	0	0	108	6	16	130
Genome-Nilou Lab	0	0	10	0	6	16
DNA-diagnostics Laboratory, Research Centre For Medical Genetics	0	1	2	0	0	3
Genomic Research Center, Shahid Beheshti University of Medical Sciences	1	0	1	0	0	2
3billion	1	0	1	0	0	2
Genomics England Pilot Project, Genomics England	0	2	0	0	0	2
Molecular Endocrinology Laboratory, Christian Medical College	0	0	2	0	0	2
Provincial Medical Genetics Program of British Columbia, University of British Columbia	0	0	2	0	0	2
OMIM	1	0	0	0	0	1
Genetic Services Laboratory, University of Chicago	1	0	0	0	0	1
Genetics and Molecular Pathology, SA Pathology	1	0	0	0	0	1
Tolun Lab, Human Genetics Laboratory, Bogazici University	0	0	1	0	0	1
New York Genome Center	0	0	1	0	0	1
Neuberg Centre For Genomic Medicine, NCGM	0	0	1	0	0	1

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