Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000642552 | SCV000764238 | likely benign | Hereditary spastic paraplegia 11 | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Mayo Clinic Laboratories, |
RCV001508756 | SCV001715103 | uncertain significance | not provided | 2019-07-15 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002467956 | SCV002763903 | uncertain significance | Amyotrophic lateral sclerosis type 5 | criteria provided, single submitter | clinical testing | ||
Genome- |
RCV002467957 | SCV002763904 | uncertain significance | Charcot-Marie-Tooth disease axonal type 2X | criteria provided, single submitter | clinical testing | ||
Genome- |
RCV000642552 | SCV002763905 | uncertain significance | Hereditary spastic paraplegia 11 | criteria provided, single submitter | clinical testing | ||
Ambry Genetics | RCV002530011 | SCV003676277 | likely benign | Inborn genetic diseases | 2022-12-14 | 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. |