Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000729345 | SCV000856997 | uncertain significance | not provided | 2017-09-18 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001083920 | SCV001036411 | likely benign | Bifunctional peroxisomal enzyme deficiency; Perrault syndrome | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004535821 | SCV004733931 | likely benign | HSD17B4-related disorder | 2019-05-20 | 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, |
RCV001274461 | SCV001458666 | likely benign | Bifunctional peroxisomal enzyme deficiency | 2020-09-16 | no assertion criteria provided | clinical testing |