Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000186798 | SCV000240367 | likely benign | not provided | 2019-09-24 | criteria provided, single submitter | clinical testing | In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Observed in individuals with sporadic hemiplegic migraine, benign paroxysmal torticollis of infancy, or seizures and developmental delay, but familial segregation information was not included (Aceves et al., 2013; Danielsson et al., 2018; Hesse et al., 2018); This variant is associated with the following publications: (PMID: 24396618, 29956301, 29778030) |
Ambry Genetics | RCV002312734 | SCV000845857 | benign | Inborn genetic diseases | 2022-05-13 | 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. |
Invitae | RCV000715034 | SCV001010225 | likely benign | Familial hemiplegic migraine | 2023-12-13 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000186798 | SCV001143131 | benign | not provided | 2018-12-06 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000186798 | SCV004032984 | likely benign | not provided | 2023-07-01 | criteria provided, single submitter | clinical testing | ATP1A2: PP2, PP3, BS2 |