Submissions for variant NM_012073.5(CCT5):c.-23G>A

gnomAD frequency: 0.74239  dbSNP: rs2548546

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000603138	SCV000451808	benign	Hereditary sensory and autonomic neuropathy with spastic paraplegia	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Genome-Nilou Lab	RCV000603138	SCV001776006	benign	Hereditary sensory and autonomic neuropathy with spastic paraplegia	2021-07-14	criteria provided, single submitter	clinical testing
GeneDx	RCV001653682	SCV001869389	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001653682	SCV005298651	benign	not provided		criteria provided, single submitter	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000603138	SCV000734368	benign	Hereditary sensory and autonomic neuropathy with spastic paraplegia		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV001700339	SCV001919235	benign	not specified		no assertion criteria provided	clinical testing