Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000702520 | SCV000831378 | likely benign | Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency | 2023-01-25 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002536358 | SCV003725716 | likely benign | Inborn genetic diseases | 2021-10-28 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: 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 |
RCV003907956 | SCV004724261 | likely benign | CA5A-related condition | 2023-04-19 | 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). |