Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001712181 | SCV000512189 | likely benign | not provided | 2021-04-09 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000635237 | SCV000756622 | likely benign | Familial hemiplegic migraine | 2023-10-16 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002379291 | SCV002695799 | likely benign | Inborn genetic diseases | 2018-07-27 | 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 |
RCV001712181 | SCV004125074 | likely benign | not provided | 2022-07-01 | criteria provided, single submitter | clinical testing | ATP1A2: BP4, BP7 |
Prevention |
RCV003972569 | SCV004793100 | likely benign | ATP1A2-related condition | 2019-03-20 | 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). |