Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000593842 | SCV000704845 | uncertain significance | not provided | 2016-12-27 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV002062045 | SCV002401979 | likely benign | Niemann-Pick disease, type C1 | 2024-11-18 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003945403 | SCV004758021 | likely benign | NPC1-related disorder | 2022-01-21 | 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). |