Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000974287 | SCV001122104 | benign | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics | RCV001288430 | SCV001475521 | benign | not specified | 2020-01-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001276416 | SCV002055379 | benign | Familial hypokalemia-hypomagnesemia | 2021-07-15 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001276416 | SCV001462682 | likely benign | Familial hypokalemia-hypomagnesemia | 2019-12-14 | no assertion criteria provided | clinical testing | |
Prevention |
RCV003936185 | SCV004755802 | likely benign | SLC12A3-related disorder | 2019-03-06 | no assertion criteria provided | 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). |