Variants studied for Bardet-Biedl syndrome 13

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	67	85	8	12	175

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
MKS1	16	64	79	6	11	164
LOC130061271, MKS1	1	3	6	2	1	11

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	45	4	8	57
Baylor Genetics	13	34	2	0	0	49
Counsyl	0	21	24	4	0	49
Myriad Genetics, Inc.	0	18	0	0	0	18
Fulgent Genetics, Fulgent Genetics	1	5	8	0	0	14
New York Genome Center	0	0	11	0	0	11
Genome-Nilou Lab	0	0	4	0	6	10
OMIM	4	0	0	0	0	4
Molecular Endocrinology Laboratory, Christian Medical College	0	0	2	0	0	2
Mendelics	0	0	1	0	0	1
Centre for Mendelian Genomics, University Medical Centre Ljubljana	1	0	0	0	0	1
InterGenetics	1	0	0	0	0	1
Laboratory of Medical Genetics, University of Torino	0	1	0	0	0	1
Pediatrics Genetics, Post Graduate Institute of Medical Education and Research	0	1	0	0	0	1
Pars Genome Lab	0	0	1	0	0	1

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