Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetics Laboratory, |
RCV001420335 | SCV001622755 | likely pathogenic | See cases | 2021-04-26 | criteria provided, single submitter | clinical testing | PVS1_very strong;PM2_supporting |
Fulgent Genetics, |
RCV002488234 | SCV002791665 | likely pathogenic | Renal hypomagnesemia 6; Hypomagnesemia, seizures, and intellectual disability 1 | 2021-09-21 | criteria provided, single submitter | clinical testing |