Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000174395 | SCV000225687 | likely benign | not specified | 2014-07-21 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001704251 | SCV000527369 | likely benign | not provided | 2020-11-27 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000464114 | SCV000563627 | benign | Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5 | 2025-01-24 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002269933 | SCV002555303 | benign | Developmental and epileptic encephalopathy, 14 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002269934 | SCV002555304 | benign | Autosomal dominant nocturnal frontal lobe epilepsy 5 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002426830 | SCV002740342 | likely benign | Inborn genetic diseases | 2017-07-27 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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. |
ARUP Laboratories, |
RCV001704251 | SCV005879425 | likely benign | not provided | 2023-12-21 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003907558 | SCV004723977 | likely benign | KCNT1-related disorder | 2019-12-16 | no assertion criteria provided | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |