Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000351423 | SCV000342450 | uncertain significance | not provided | 2016-06-19 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001085340 | SCV001054779 | likely benign | Peroxisome biogenesis disorder, complementation group K | 2023-12-23 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003957497 | SCV004768432 | likely benign | PEX14-related condition | 2021-10-29 | 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). |