ClinVar Miner

Submissions for variant NM_000027.4(AGA):c.34G>T (p.Val12Leu)

dbSNP: rs74626221
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169339 SCV000220693 likely benign Aspartylglucosaminuria 2014-09-19 criteria provided, single submitter literature only
Illumina Laboratory Services, Illumina RCV000169339 SCV001309169 uncertain significance Aspartylglucosaminuria 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). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Invitae RCV000169339 SCV001730833 benign Aspartylglucosaminuria 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV000675822 SCV001916276 benign not provided 2018-11-27 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 11309371)
Mayo Clinic Laboratories, Mayo Clinic RCV000675822 SCV000801544 likely benign not provided 2017-04-25 no assertion criteria provided clinical testing
Natera, Inc. RCV000169339 SCV002084896 benign Aspartylglucosaminuria 2019-12-02 no assertion criteria provided 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.