Variants studied for Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome

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
7	2	2	0	6	17

Gene and significance breakdown #

Total genes and gene combinations: 1

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	benign	total
SFXN4	7	2	2	6	17

Submitter and significance breakdown #

Total submitters: 8

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Submitter	pathogenic	likely pathogenic	uncertain significance	benign	total
Genome-Nilou Lab	0	0	0	6	6
OMIM	3	0	0	0	3
Baylor Genetics	1	1	1	0	3
Revvity Omics, Revvity	1	0	1	0	2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München	2	0	0	0	2
Institute of Human Genetics, University of Leipzig Medical Center	2	0	0	0	2
Genomic Research Center, Shahid Beheshti University of Medical Sciences	1	0	0	0	1
Juno Genomics, Hangzhou Juno Genomics, Inc	0	1	0	0	1

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