Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000593351 | SCV000702739 | uncertain significance | not provided | 2016-10-11 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001080311 | SCV001043085 | likely benign | Peroxisome biogenesis disorder 5A (Zellweger) | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003925778 | SCV004743842 | likely benign | PEX2-related disorder | 2019-09-13 | 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). |
Natera, |
RCV001279838 | SCV001466969 | likely benign | Zellweger spectrum disorders | 2020-09-21 | no assertion criteria provided | clinical testing |