Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000725858 | SCV000339981 | uncertain significance | not provided | 2016-03-21 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000264476 | SCV000615125 | likely benign | not specified | 2017-06-25 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001082809 | SCV000649300 | benign | Neuropathy, hereditary sensory and autonomic, type 2A; Generalized epilepsy with febrile seizures plus, type 7 | 2024-01-12 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000264476 | SCV000718097 | likely benign | not specified | 2017-04-13 | 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. |
Ambry Genetics | RCV002436115 | SCV002743660 | likely benign | Inborn genetic diseases | 2019-07-11 | 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. |