Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Soonchunhyang University Bucheon Hospital, |
RCV000490312 | SCV000267235 | uncertain significance | Bartter disease type 4A | 2016-03-18 | criteria provided, single submitter | reference population | |
Gene |
RCV000835678 | SCV000977483 | 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 | RCV000835678 | SCV001051775 | likely benign | not provided | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001273328 | SCV001456273 | likely benign | Bartter syndrome | 2020-09-16 | no assertion criteria provided | clinical testing |