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)

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
23	7	629	796	129	2	1488

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	23	7	624	793	128	2	1479
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: 4

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Labcorp Genetics (formerly Invitae), Labcorp	21	2	501	774	129	0	1427
Fulgent Genetics, Fulgent Genetics	6	5	197	79	4	0	291
Department of Pathology and Laboratory Medicine, Sinai Health System	0	0	2	0	0	0	2
GenomeConnect - Invitae Patient Insights Network	0	0	0	0	0	2	2

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