ClinVar Miner

Submissions for variant NM_000431.4(MVK):c.924C>T (p.Leu308=) (rs72648042)

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 RCV000724566 SCV000224829 uncertain significance not provided 2015-02-11 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000194317 SCV000248097 uncertain significance not specified 2014-04-04 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000194317 SCV000304229 likely benign not specified criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001283369 SCV000604317 likely benign none provided 2019-08-13 criteria provided, single submitter clinical testing
Invitae RCV001085707 SCV000645647 likely benign Mevalonic aciduria; Porokeratosis 3, disseminated superficial actinic type; Hyperimmunoglobulin D with periodic fever 2020-11-17 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001110867 SCV001268351 uncertain significance Mevalonic aciduria 2018-02-13 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.
Illumina Clinical Services Laboratory,Illumina RCV001110868 SCV001268352 uncertain significance Hyperimmunoglobulin D with periodic fever 2018-02-13 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.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000724566 SCV001501436 likely benign not provided 2020-07-01 criteria provided, single submitter clinical 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.