ClinVar Miner

Submissions for variant NM_000530.8(MPZ):c.684C>T (p.Ser228=) (rs34307129)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 10
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000117630 SCV000170321 benign not specified 2014-03-17 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Illumina Clinical Services Laboratory,Illumina RCV000475505 SCV000350225 likely benign Charcot-Marie-Tooth disease, type I 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000384849 SCV000350226 likely benign Charcot-Marie-Tooth, Intermediate 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000271688 SCV000350227 likely benign Congenital hypomyelinating neuropathy 1, autosomal recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000271688 SCV000350228 likely benign Congenital hypomyelinating neuropathy 1, autosomal recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000385856 SCV000350229 likely benign Roussy-Lévy syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000756346 SCV000562802 benign not provided 2019-03-05 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000576314 SCV000677355 benign Charcot-Marie-Tooth disease type 2I; Charcot-Marie-Tooth disease type 2J; Charcot-Marie-Tooth disease, demyelinating, type 1b 2017-05-15 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000117630 SCV000884126 benign not specified 2018-07-22 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000117630 SCV000151862 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.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.