Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000117341 | SCV000151523 | benign | not specified | 2021-08-30 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001703417 | SCV000169969 | benign | not provided | 2020-09-01 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 27779742, 32169601, 31180159, 20981092, 22995991, 19380078, 25819767, 28399683, 28038823, 30558019, 31199083) |
Soonchunhyang University Bucheon Hospital, |
RCV000020972 | SCV000267377 | uncertain significance | Seizures, benign familial neonatal, 1 | 2016-03-18 | criteria provided, single submitter | reference population | |
Invitae | RCV000465560 | SCV000555714 | benign | Early infantile epileptic encephalopathy with suppression bursts | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002313718 | SCV000848170 | benign | Inborn genetic diseases | 2016-11-02 | 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. |
Eurofins Ntd Llc |
RCV000117341 | SCV000854943 | benign | not specified | 2017-08-30 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001703417 | SCV004150919 | benign | not provided | 2023-09-01 | criteria provided, single submitter | clinical testing | KCNQ2: PP2, BS1, BS2 |
Channelopathy- |
RCV003315295 | SCV004015082 | not provided | Complex neurodevelopmental disorder | no assertion provided | literature only |