Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000439256 | SCV000529249 | likely benign | not specified | 2017-08-14 | 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. |
Genome Diagnostics Laboratory, |
RCV001848782 | SCV002105240 | uncertain significance | Hereditary spastic paraplegia | 2018-03-01 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV002059752 | SCV002436159 | likely benign | Hereditary spastic paraplegia 30; Neuropathy, hereditary sensory, type 2C; Intellectual disability, autosomal dominant 9 | 2022-10-26 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002328969 | SCV002628647 | 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: 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. |