ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.30395A>G (p.His10132Arg)

gnomAD frequency: 0.00003  dbSNP: rs1057518758
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000415282 SCV000492525 uncertain significance Bilateral talipes equinovarus; Restrictive ventilatory defect; Areflexia of lower limbs; Spinal rigidity; Thoracic kyphoscoliosis 2014-06-11 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.