ClinVar Miner

Submissions for variant NM_016030.6(TRAPPC12):c.1417+16T>C

gnomAD frequency: 0.02827  dbSNP: rs112370205
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002178044 SCV002347352 benign not provided 2024-01-16 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002498171 SCV002808982 likely benign Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome 2022-05-17 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV002178044 SCV005283798 benign not provided criteria provided, single submitter not provided

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.