Submissions for variant NM_181882.3(PRX):c.2645T>C (p.Val882Ala)

gnomAD frequency: 0.59048  dbSNP: rs268671

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV001094600	SCV000413221	benign	Charcot-Marie-Tooth disease type 4F	2018-01-12	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.
Athena Diagnostics	RCV000118075	SCV000614801	benign	not specified	2017-07-12	criteria provided, single submitter	clinical testing
Invitae	RCV000388381	SCV001000208	benign	Charcot-Marie-Tooth disease type 4	2024-02-01	criteria provided, single submitter	clinical testing
Molecular Genetics Laboratory, London Health Sciences Centre	RCV001173953	SCV001337072	benign	Charcot-Marie-Tooth disease		criteria provided, single submitter	clinical testing
GeneDx	RCV001705851	SCV001857263	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001094600	SCV002031969	benign	Charcot-Marie-Tooth disease type 4F	2021-10-25	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001789173	SCV002031970	benign	Dejerine-Sottas disease	2021-10-25	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000118075	SCV000152405	likely benign	not specified		no assertion criteria provided	clinical testing	Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000118075	SCV001742437	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000118075	SCV001920713	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000118075	SCV001955877	benign	not specified		no assertion criteria provided	clinical testing