Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000730319 | SCV000858047 | uncertain significance | not provided | 2017-11-09 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001448407 | SCV001651498 | likely benign | Zellweger spectrum disorders | 2022-10-24 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003983187 | SCV004797964 | likely benign | PEX1-related condition | 2022-01-15 | 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). |