ClinVar Miner

Submissions for variant m.4216T>C

dbSNP: rs1599988
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
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine RCV000853749 SCV000996782 benign Leigh syndrome 2019-10-17 criteria provided, single submitter clinical testing The NC_012920.1:m.4216T>C (YP_003024026.1:p.Tyr304His) variant in MTND1 gene is interpretated to be a Benign variant based on the modified ACMG guidelines (unpublished). This variant meets the following evidence codes: BA1
OMIM RCV000010373 SCV000030599 pathogenic Leber optic atrophy 1992-09-30 no assertion criteria provided literature only
GeneReviews RCV000010373 SCV000087256 unknown Leber optic atrophy 2013-09-19 no assertion criteria provided curation Converted during submission to Uncertain significance.
GenomeConnect, ClinGen RCV000709875 SCV000840212 not provided not provided no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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.