Variants studied for Senior-Loken syndrome 7; Bardet-Biedl syndrome 16

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
41	38	304	205	16	591

Gene and significance breakdown #

Total genes and gene combinations: 5

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
SDCCAG8	36	37	280	181	14	535
AKT3, SDCCAG8	1	1	22	24	2	50
CEP170, SDCCAG8	3	0	1	0	0	4
ADSS2, AKT3, CATSPERE, CEP170, COX20, DESI2, HNRNPU, SDCCAG8, SPMIP3, ZBTB18	0	0	1	0	0	1
AKT3, AKT3-IT1, CEP170, LINC01347, LOC110120698, LOC122152350, LOC122152351, LOC122152352, LOC122152353, LOC126806071, LOC126806072, LOC126806073, LOC126806074, LOC129388799, MIR4677, PLD5, SDCCAG8	1	0	0	0	0	1

Submitter and significance breakdown #

Total submitters: 4

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Labcorp Genetics (formerly Invitae), Labcorp	39	14	248	202	16	519
Fulgent Genetics, Fulgent Genetics	5	26	126	20	0	177
New York Genome Center	0	0	2	0	0	2
Laboratory of Molecular Oncology, N.N. Petrov Institute of Oncology	0	0	1	0	0	1

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