Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Zarate Arkansas Children's Genetics Clinic, |
RCV001252681 | SCV001428440 | likely pathogenic | Developmental and epileptic encephalopathy, 87 | 2020-08-11 | no assertion criteria provided | clinical testing | De novo variant, in conserved residue, absent in population databases, located in functional domain with other variants |