Variants studied for Hereditary cryohydrocytosis with reduced stomatin

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
3	2	69	49	31	153

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
SLC2A1	3	2	69	48	30	151
LOC129930369, SLC2A1	0	0	0	1	0	1
SLC2A1, SLC2A1-DT	0	0	0	0	1	1

Submitter and significance breakdown #

Total submitters: 7

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Genome-Nilou Lab	0	0	67	49	31	147
Laboratory of Medical Genetics, National & Kapodistrian University of Athens	0	0	2	0	0	2
OMIM	2	0	0	0	0	2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne	0	1	0	0	0	1
Fulgent Genetics, Fulgent Genetics	0	0	1	0	0	1
Institute of Human Genetics, University of Leipzig Medical Center	1	0	0	0	0	1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center	0	1	0	0	0	1

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