Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000176684 | SCV000228375 | likely benign | not specified | 2015-05-21 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000230655 | SCV000290489 | benign | Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5 | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001701697 | SCV000523703 | benign | not provided | 2019-05-29 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002314622 | SCV000848668 | likely benign | Inborn genetic diseases | 2016-04-15 | 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 |
RCV001701697 | SCV002546126 | likely benign | not provided | 2023-06-01 | criteria provided, single submitter | clinical testing | KCNT1: BP4, BP7, BS1 |
Genome- |
RCV002269949 | SCV002553598 | benign | Developmental and epileptic encephalopathy, 14 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002269950 | SCV002553599 | benign | Autosomal dominant nocturnal frontal lobe epilepsy 5 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV001701697 | SCV004564693 | benign | not provided | 2023-09-12 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV001701697 | SCV001929626 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001701697 | SCV001971235 | likely benign | not provided | no assertion criteria provided | clinical testing |