Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000675574 | SCV002822449 | likely benign | not provided | 2024-05-01 | criteria provided, single submitter | clinical testing | NPC1: BS1 |
Prevention |
RCV003928162 | SCV004746374 | benign | NPC1-related disorder | 2019-06-19 | criteria provided, single submitter | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
Mayo Clinic Laboratories, |
RCV000675574 | SCV000801265 | likely benign | not provided | 2017-05-31 | no assertion criteria provided | clinical testing |