ClinVar Miner

Submissions for variant NM_005220.3(DLX3):c.90T>C (p.Pro30=)

gnomAD frequency: 0.00025  dbSNP: rs145424773
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000173365 SCV000224468 likely benign not specified 2015-05-13 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001123680 SCV001282533 uncertain significance Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002054048 SCV002386425 likely benign not provided 2024-11-05 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.