Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000980892 | SCV001128853 | likely benign | Niemann-Pick disease, type C1 | 2024-01-09 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003943279 | SCV004763901 | likely benign | NPC1-related condition | 2023-06-11 | 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). |