Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001704353 | SCV000528578 | likely benign | not provided | 2019-10-10 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 24951259) |
Invitae | RCV000869210 | SCV001010618 | likely benign | Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5 | 2024-01-08 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002270371 | SCV002553624 | likely benign | Developmental and epileptic encephalopathy, 14 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002270372 | SCV002553626 | likely benign | Autosomal dominant nocturnal frontal lobe epilepsy 5 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002446708 | SCV002753640 | likely benign | Inborn genetic diseases | 2019-06-03 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Ce |
RCV001704353 | SCV004158989 | likely benign | not provided | 2023-10-01 | criteria provided, single submitter | clinical testing | KCNT1: BP4, BP7 |