Variants studied for hereditary sensory and autonomic neuropathy with spastic paraplegia

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
1	1	148	82	39	263

Gene and significance breakdown #

Total genes and gene combinations: 1

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
CCT5	1	1	148	82	39	263

Submitter and significance breakdown #

Total submitters: 12

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Labcorp Genetics (formerly Invitae), Labcorp	0	0	86	78	13	177
Illumina Laboratory Services, Illumina	0	0	65	4	24	93
Genome-Nilou Lab	0	0	0	0	15	15
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	0	0	0	4	3	7
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	0	0	0	0	5	5
Revvity Omics, Revvity	0	0	3	0	0	3
Baylor Genetics	0	0	2	0	0	2
OMIM	1	0	0	0	0	1
Genomic Research Center, Shahid Beheshti University of Medical Sciences	0	0	1	0	0	1
Centre for Mendelian Genomics, University Medical Centre Ljubljana	0	0	1	0	0	1
Laboratory of Medical Genetics, University of Torino	0	1	0	0	0	1
Neuberg Centre For Genomic Medicine, NCGM	0	0	1	0	0	1

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