ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.3732C>T (p.Leu1244=)

gnomAD frequency: 0.00016  dbSNP: rs1621962
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
Eurofins Ntd Llc (ga) RCV000728885 SCV000856506 uncertain significance not provided 2018-09-18 criteria provided, single submitter clinical testing
Invitae RCV001078915 SCV001061144 likely benign Niemann-Pick disease, type C1 2024-01-29 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003908024 SCV004721612 likely benign NPC1-related disorder 2021-04-07 criteria provided, single submitter 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).
Natera, Inc. RCV001078915 SCV002095155 likely benign Niemann-Pick disease, type C1 2020-02-07 no assertion criteria provided 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.