ClinVar Miner

Submissions for variant NM_000431.4(MVK):c.510C>T (p.Asp170=)

gnomAD frequency: 0.16664  dbSNP: rs2287218
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 11
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000117652 SCV000304226 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services,Illumina RCV000378359 SCV000375782 benign Mevalonic aciduria 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.
Illumina Laboratory Services,Illumina RCV000286775 SCV000375783 benign Hyperimmunoglobulin D with periodic fever 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.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001705847 SCV000604313 benign not provided 2022-02-02 criteria provided, single submitter clinical testing
Invitae RCV001516697 SCV001725013 benign Mevalonic aciduria; Porokeratosis 3, disseminated superficial actinic type; Hyperimmunoglobulin D with periodic fever 2021-12-18 criteria provided, single submitter clinical testing
GeneDx RCV001705847 SCV001889386 benign not provided 2019-01-16 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 19888504, 15536479, 27190114, 11313769)
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002262711 SCV002542334 benign Autoinflammatory syndrome 2022-01-20 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV000117652 SCV000151884 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.
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000117652 SCV001929047 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000117652 SCV001956785 benign not specified no assertion criteria provided clinical testing
GenomeConnect, ClinGen RCV001705847 SCV002074706 not provided not provided no assertion provided phenotyping only Variant interpreted as Benign and reported on 04-27-2020 by Lab or GTR ID 500031. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant. This variant was reported in an individual referred for clinical diagnostic genetic testing.

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.