Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000728484 | SCV000856063 | uncertain significance | not provided | 2017-07-27 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002067088 | SCV002377051 | likely benign | Niemann-Pick disease, type C1 | 2023-12-13 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003892603 | SCV004713095 | likely benign | NPC1-related condition | 2021-07-20 | 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). |