Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000676814 | SCV000978022 | likely benign | not provided | 2018-06-06 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Invitae | RCV001085440 | SCV001115947 | likely benign | Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000676814 | SCV002585593 | likely benign | not provided | 2023-08-01 | criteria provided, single submitter | clinical testing | CA5A: BP4, BS2 |
Prevention |
RCV003918116 | SCV004733195 | likely benign | CA5A-related condition | 2020-09-22 | 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). |
Mayo Clinic Laboratories, |
RCV000676814 | SCV000802624 | uncertain significance | not provided | 2016-03-14 | no assertion criteria provided | clinical testing |