Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000636357 | SCV000757796 | likely benign | Early infantile epileptic encephalopathy with suppression bursts | 2023-12-11 | criteria provided, single submitter | clinical testing | |
Robert's Program, |
RCV001788307 | SCV002030058 | uncertain significance | SUDDEN INFANT DEATH SYNDROME | 2021-10-01 | criteria provided, single submitter | research | We classify this variant as a variant of uncertain significance using ACMG/AMP criteria. As this variant has functional evidence supporting pathogenicty, we suspect this variant is favoring pathogenic. |