Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000153683 | SCV000203240 | uncertain significance | not provided | 2016-12-05 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001081360 | SCV001035988 | likely benign | Peroxisome biogenesis disorder 5A (Zellweger) | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003937430 | SCV004752685 | likely benign | PEX2-related condition | 2022-02-25 | 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). |