ClinVar Miner

Submissions for variant NM_000100.3(CSTB):c.121G>A (p.Val41Met) (rs143153487)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 8
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000187274 SCV000227015 likely benign not specified 2018-06-15 criteria provided, single submitter clinical testing
GeneDx RCV000187274 SCV000240856 likely benign not specified 2018-03-06 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.
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000175522 SCV000280887 uncertain significance not provided 2015-12-23 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
Invitae RCV001084812 SCV000547857 likely benign Progressive myoclonic epilepsy 2019-12-31 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000624931 SCV000743130 benign Unverricht-Lundborg syndrome 2017-07-28 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000624931 SCV000744131 likely benign Unverricht-Lundborg syndrome 2016-09-29 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000175522 SCV001143870 likely benign not provided 2018-11-02 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000624931 SCV001303485 uncertain significance Unverricht-Lundborg syndrome 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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.