Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000585481 | SCV000293021 | uncertain significance | not provided | 2023-03-07 | criteria provided, single submitter | clinical testing | In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 26503042, 26138142, 25168514, 32376792, 34813128) |
Ce |
RCV000585481 | SCV000693234 | likely benign | not provided | 2024-02-01 | criteria provided, single submitter | clinical testing | GARS1: BP4 |
Invitae | RCV001080429 | SCV001010574 | likely benign | Charcot-Marie-Tooth disease type 2 | 2023-12-18 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003165659 | SCV003869816 | uncertain significance | Inborn genetic diseases | 2023-01-27 | criteria provided, single submitter | clinical testing | Unlikely to be causative of GARS1-related axonal neuropathy (AD) Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |