Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000724878 | SCV000226671 | uncertain significance | not provided | 2017-03-14 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000724878 | SCV000523050 | benign | not provided | 2020-09-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002312712 | SCV000846788 | likely benign | Inborn genetic diseases | 2018-04-11 | 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. |
Invitae | RCV001081967 | SCV001003603 | likely benign | Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5 | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000724878 | SCV003812033 | uncertain significance | not provided | 2021-05-19 | criteria provided, single submitter | clinical testing |