Variants studied for Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E

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	not provided	total
18	6	455	669	115	1	1206

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	not provided	total
INF2	18	6	450	666	114	1	1197
INF2, LOC130056630	0	0	3	3	1	0	7
ADSS1, AHNAK2, AKT1, BRF1, BTBD6, CDCA4, CEP170B, CLBA1, GPR132, INF2, JAG2, NUDT14, PACS2, PLD4, SIVA1, ZBTB42	0	0	1	0	0	0	1
ADSS1, INF2	0	0	1	0	0	0	1

Submitter and significance breakdown #

Total submitters: 3

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Invitae	17	4	414	648	115	0	1198
Fulgent Genetics, Fulgent Genetics	5	2	74	72	4	0	157
GenomeConnect - Invitae Patient Insights Network	0	0	0	0	0	1	1

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