ClinVar Miner

Submissions for variant NM_001039876.3(SYNE4):c.7C>T (p.Leu3=)

gnomAD frequency: 0.00095  dbSNP: rs373148223
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000605868 SCV000711579 likely benign not specified 2017-06-22 criteria provided, single submitter clinical testing p.Leu3Leu in exon 1 of SYNE4: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. It has been identified in 0.2 (72/33578) of La tino chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broad institute.org; dbSNP rs373148223).
Invitae RCV000948477 SCV001094689 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV000948477 SCV001769898 likely benign not provided 2021-04-13 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003900364 SCV004708785 likely benign SYNE4-related condition 2019-09-17 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).

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.