Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000176360 | SCV000228001 | uncertain significance | not provided | 2015-05-06 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001078845 | SCV001126065 | likely benign | Niemann-Pick disease, type C1 | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000176360 | SCV002498357 | likely benign | not provided | 2022-05-01 | criteria provided, single submitter | clinical testing | NPC1: BP4, BP7 |
Prevention |
RCV003895190 | SCV004714705 | likely benign | NPC1-related disorder | 2021-03-09 | 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). |