Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV003227716 | SCV003924799 | likely pathogenic | not provided | 2022-11-09 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 32529326, 27120771, 29146702, 28973533, 34926352) |
OMIM | RCV000211522 | SCV000268429 | pathogenic | Bartter disease type 5 | 2016-09-23 | no assertion criteria provided | literature only |