ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.271C>T (p.Leu91=)

gnomAD frequency: 0.00001  dbSNP: rs773809600
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
Labcorp Genetics (formerly Invitae), Labcorp RCV002102996 SCV002388797 likely benign Niemann-Pick disease, type C1 2023-12-15 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003893263 SCV004710083 likely benign NPC1-related disorder 2021-12-15 no assertion criteria provided 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.