Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000409536 | SCV000486061 | likely pathogenic | Rhizomelic chondrodysplasia punctata type 1 | 2016-03-22 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001387967 | SCV001588747 | pathogenic | Peroxisome biogenesis disorder 9B | 2023-12-24 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln93*) in the PEX7 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PEX7 are known to be pathogenic (PMID: 12325024, 12522768, 20301447). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with PEX7-related conditions. ClinVar contains an entry for this variant (Variation ID: 370682). For these reasons, this variant has been classified as Pathogenic. |
Genome Diagnostics Laboratory, |
RCV002278634 | SCV002566965 | pathogenic | Connective tissue disorder | 2022-01-14 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002502423 | SCV002809925 | pathogenic | Phytanic acid storage disease; Rhizomelic chondrodysplasia punctata type 1; Peroxisome biogenesis disorder 9B | 2022-02-04 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV001387967 | SCV004203897 | likely pathogenic | Peroxisome biogenesis disorder 9B | 2023-09-19 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001828373 | SCV002077235 | pathogenic | Rhizomelic chondrodysplasia punctata | 2021-09-30 | no assertion criteria provided | clinical testing |