Variants studied for hereditary spastic paraplegia 6

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
5	1	156	76	53	284

Gene and significance breakdown #

Total genes and gene combinations: 5

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
NIPA1	4	1	112	58	48	218
LOC130056709, NIPA1	1	0	36	16	5	56
LOC130056709, LOC130056710, LOC130056711, LOC130056712, LOC130056713, NIPA1	0	0	6	0	0	6
NIPA1, NIPA2	0	0	1	2	0	3
CYFIP1, LOC112272575, LOC126862074, LOC130056709, LOC130056710, LOC130056711, LOC130056712, LOC130056713, LOC130056714, LOC130056715, LOC130056716, LOC130056717, LOC130056718, NIPA1, NIPA2, TUBGCP5	0	0	1	0	0	1

Submitter and significance breakdown #

Total submitters: 13

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Labcorp Genetics (formerly Invitae), Labcorp	4	0	72	72	10	158
Illumina Laboratory Services, Illumina	0	0	84	7	44	135
OMIM	3	0	0	0	0	3
Revvity Omics, Revvity	0	0	3	0	0	3
Centre for Mendelian Genomics, University Medical Centre Ljubljana	1	0	1	0	1	3
Paris Brain Institute, Inserm - ICM	2	0	0	0	0	2
Institute of Human Genetics, University of Goettingen	0	0	1	0	0	1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	0	1	0	0	1
Institute of Human Genetics, University of Leipzig Medical Center	0	0	0	0	1	1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	0	0	0	0	1	1
Genome-Nilou Lab	0	0	0	0	1	1
Neuberg Centre For Genomic Medicine, NCGM	1	0	0	0	0	1
Solve-RD Consortium	0	1	0	0	0	1

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