ClinVar Miner

Submissions for variant NM_152383.5(DIS3L2):c.795C>T (p.Tyr265=)

gnomAD frequency: 0.00047  dbSNP: rs202042951
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000232381 SCV000291517 benign Perlman syndrome 2024-01-11 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000232381 SCV000428365 uncertain significance Perlman syndrome 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
CeGaT Center for Human Genetics Tuebingen RCV003437030 SCV004153459 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing DIS3L2: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003939899 SCV004748802 likely benign DIS3L2-related condition 2019-06-12 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Genetic Services Laboratory, University of Chicago RCV003150999 SCV003839428 likely benign not specified 2022-08-01 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.