Variants studied for Hereditary hemochromatosis

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	pathogenic, low penetrance	not provided	total
107	28	112	827	41	2	3	1117

Gene and significance breakdown #

Total genes and gene combinations: 8

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	pathogenic, low penetrance	not provided	total
TFR2	65	21	58	602	25	0	0	771
HFE	27	5	29	121	8	2	2	191
LOC113687175, TFR2	14	1	12	44	1	0	0	72
HAMP	1	1	11	50	5	0	0	68
LOC129998967, TFR2	0	0	0	7	0	0	0	7
SLC40A1	0	0	1	3	0	0	0	4
LOC129935241, SLC40A1	0	0	1	0	2	0	0	3
MYO18A	0	0	0	0	0	0	1	1

Submitter and significance breakdown #

Total submitters: 5

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	pathogenic, low penetrance	not provided	total
Invitae	106	28	109	824	39	2	0	1108
Illumina Laboratory Services, Illumina	0	0	3	3	2	0	0	8
GenomeConnect - Invitae Patient Insights Network	0	0	0	0	0	0	2	2
DASA	2	0	0	0	0	0	0	2
GenomeConnect - Brain Gene Registry	0	0	0	0	0	0	2	2

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