Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000724573 | SCV000224627 | uncertain significance | not provided | 2015-01-26 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000251962 | SCV000313676 | likely benign | not specified | criteria provided, single submitter | clinical testing | ||
Gene |
RCV000251962 | SCV000522801 | benign | not specified | 2016-08-05 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Invitae | RCV001084760 | SCV000563664 | benign | Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5 | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002313024 | SCV000848296 | likely benign | Inborn genetic diseases | 2016-05-03 | 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 |
RCV000724573 | SCV001500581 | benign | not provided | 2024-02-01 | criteria provided, single submitter | clinical testing | KCNT1: BP4, BP7, BS1, BS2 |
Diagnostic Laboratory, |
RCV000724573 | SCV001740440 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV000724573 | SCV001931523 | likely benign | not provided | no assertion criteria provided | clinical testing |