Variants studied for Renal coloboma syndrome; Focal segmental glomerulosclerosis 7

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
32	19	160	122	16	339

Gene and significance breakdown #

Total genes and gene combinations: 3

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
PAX2	31	18	160	122	16	337
HIF1AN, NDUFB8, PAX2	1	0	0	0	0	1
LOC110120845, PAX2	0	1	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	29	9	146	114	16	314
Fulgent Genetics, Fulgent Genetics	9	10	33	17	2	71
Juno Genomics, Hangzhou Juno Genomics, Inc	1	0	0	0	0	1
University of Iowa Renal Genetics Clinic, University of Iowa	0	1	0	0	0	1

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