ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.15978C>T (p.His5326=)

gnomAD frequency: 0.00004  dbSNP: rs397517482
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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 RCV000039880 SCV000063571 likely benign not specified 2012-06-28 criteria provided, single submitter clinical testing His4082His in exon 51 of TTN: 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. His4082His in exon 51 of TTN (allele frequen cy = n/a)
Labcorp Genetics (formerly Invitae), Labcorp RCV002054775 SCV002358938 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-09-28 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.