Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000204784 | SCV000262334 | likely benign | Hereditary spastic paraplegia 49 | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001573949 | SCV000730150 | likely benign | not provided | 2019-07-18 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001573949 | SCV001961472 | likely benign | not provided | 2024-05-01 | criteria provided, single submitter | clinical testing | TECPR2: BS2 |
Genome Diagnostics Laboratory, |
RCV001847942 | SCV002105941 | likely benign | Hereditary spastic paraplegia | 2020-07-09 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002517387 | SCV003678576 | likely benign | Inborn genetic diseases | 2022-05-02 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Prevention |
RCV003967560 | SCV004778756 | likely benign | TECPR2-related disorder | 2020-09-11 | 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). |
Laboratory of Diagnostic Genome Analysis, |
RCV001573949 | SCV001800556 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics, |
RCV001573949 | SCV001922110 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Natera, |
RCV000204784 | SCV002091144 | benign | Hereditary spastic paraplegia 49 | 2019-12-10 | no assertion criteria provided | clinical testing |