Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001712224 | SCV000521192 | likely benign | not provided | 2020-11-12 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000468608 | SCV000556864 | likely benign | Familial hemiplegic migraine | 2024-01-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002402139 | SCV002705928 | likely benign | Inborn genetic diseases | 2017-09-14 | 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. |
Ce |
RCV001712224 | SCV002821439 | likely benign | not provided | 2022-10-01 | criteria provided, single submitter | clinical testing | ATP1A2: BP4, BP7 |
Prevention |
RCV003897867 | SCV004712149 | likely benign | ATP1A2-related condition | 2023-03-21 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |