Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000729182 | SCV000856824 | uncertain significance | not provided | 2018-02-22 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001086222 | SCV001018902 | likely benign | Niemann-Pick disease, type C1 | 2024-01-21 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003918193 | SCV004727730 | likely benign | NPC1-related disorder | 2023-11-01 | 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). |