Variants studied for Bardet-Biedl syndrome 11

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)

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
2	24	171	13	6	2	213

Gene and significance breakdown #

Total genes and gene combinations: 1

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
ASTN2, TRIM32	2	24	171	13	6	2	213

Submitter and significance breakdown #

Total submitters: 14

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Fulgent Genetics, Fulgent Genetics	0	22	116	10	0	0	148
Illumina Laboratory Services, Illumina	0	0	56	2	6	0	64
Department of Pathology and Laboratory Medicine, Sinai Health System	0	0	3	0	0	0	3
Baylor Genetics	0	0	2	0	0	0	2
Centre for Mendelian Genomics, University Medical Centre Ljubljana	1	1	0	0	0	0	2
GenomeConnect - Invitae Patient Insights Network	0	0	0	0	0	2	2
Molecular Endocrinology Laboratory, Christian Medical College	0	0	2	0	0	0	2
First Genomix Gene Laboratory, Genetic Diagnostics Department	0	1	0	0	0	0	1
Genomic Research Center, Shahid Beheshti University of Medical Sciences	0	0	0	1	0	0	1
Juno Genomics, Hangzhou Juno Genomics, Inc	0	0	1	0	0	0	1
Kariminejad - Najmabadi Pathology & Genetics Center	0	0	1	0	0	0	1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	0	1	0	0	0	0	1
Mayo Clinic Laboratories, Mayo Clinic	0	0	1	0	0	0	1
OMIM	1	0	0	0	0	0	1

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