Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000362128 | SCV000344145 | uncertain significance | not provided | 2016-08-11 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001089180 | SCV001090110 | likely benign | Niemann-Pick disease, type C1 | 2023-11-21 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003957509 | SCV004775392 | likely benign | NPC1-related condition | 2023-11-10 | 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). |