Total submissions: 6
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Counsyl | RCV000411881 | SCV000487557 | likely pathogenic | Peroxisome biogenesis disorder 1A (Zellweger) | 2016-03-29 | criteria provided, single submitter | clinical testing | |
| Counsyl | RCV000409416 | SCV000487558 | likely pathogenic | Peroxisome biogenesis disorder 1B | 2016-03-29 | criteria provided, single submitter | clinical testing | |
| Baylor Genetics | RCV001004320 | SCV001163201 | likely pathogenic | Peroxisome biogenesis disorder 1A (Zellweger); Peroxisome biogenesis disorder 1B | criteria provided, single submitter | clinical testing | ||
| Labcorp Genetics |
RCV001213658 | SCV001385302 | pathogenic | Zellweger spectrum disorders | 2024-03-20 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg896*) in the PEX1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PEX1 are known to be pathogenic (PMID: 21031596, 26387595, 31831025). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with PEX1-related conditions. ClinVar contains an entry for this variant (Variation ID: 371721). For these reasons, this variant has been classified as Pathogenic. |
| Baylor Genetics | RCV003475984 | SCV004203309 | likely pathogenic | Heimler syndrome 1 | 2023-11-23 | criteria provided, single submitter | clinical testing | |
| Fulgent Genetics, |
RCV005033923 | SCV005669706 | likely pathogenic | Peroxisome biogenesis disorder 1A (Zellweger); Heimler syndrome 1; Peroxisome biogenesis disorder 1B | 2024-06-01 | criteria provided, single submitter | clinical testing |