Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001266663 | SCV001444840 | likely pathogenic | Inborn genetic diseases | 2018-08-16 | criteria provided, single submitter | clinical testing | |
Gene |
RCV003332217 | SCV004040160 | pathogenic | not provided | 2023-03-22 | 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: 35675510, 29668857, 32045939) |
OMIM | RCV000656506 | SCV000778503 | pathogenic | Epileptic encephalopathy, infantile or early childhood, 3 | 2021-03-15 | no assertion criteria provided | literature only |