Variants studied for Kufor-Rakeb syndrome; Autosomal recessive spastic paraplegia type 78

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
31	17	373	372	44	824

Gene and significance breakdown #

Total genes and gene combinations: 2

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
ATP13A2	31	17	369	369	44	817
ATP13A2, LOC129929540	0	0	4	3	0	7

Submitter and significance breakdown #

Total submitters: 5

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Labcorp Genetics (formerly Invitae), Labcorp	31	13	359	366	44	813
Fulgent Genetics, Fulgent Genetics	1	3	27	7	1	39
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	0	0	7	0	0	7
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill	0	2	0	0	0	2
3billion	0	0	0	1	0	1

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