Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000175931 | SCV000151539 | benign | not specified | 2016-06-07 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000175931 | SCV000227505 | benign | not specified | 2014-08-07 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000175931 | SCV000523114 | benign | not specified | 2016-02-11 | 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 | RCV000464310 | SCV000563639 | benign | Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5 | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002312157 | SCV000847009 | benign | Inborn genetic diseases | 2016-07-05 | criteria provided, single submitter | clinical testing | This alteration is classified as 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. |
Genome- |
RCV002269824 | SCV002554862 | benign | Developmental and epileptic encephalopathy, 14 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002269825 | SCV002554863 | benign | Autosomal dominant nocturnal frontal lobe epilepsy 5 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Ce |
RCV002274915 | SCV002564084 | likely benign | not provided | 2024-02-01 | criteria provided, single submitter | clinical testing | KCNT1: BS2 |