Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000585328 | SCV000524726 | likely benign | not provided | 2020-05-22 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000585328 | SCV000612530 | benign | not provided | 2019-03-01 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000585328 | SCV000692950 | likely benign | not provided | 2023-08-01 | criteria provided, single submitter | clinical testing | CACNA1A: BP4, BP7 |
Invitae | RCV001084768 | SCV001091928 | likely benign | Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002450997 | SCV002616231 | likely benign | Inborn genetic diseases | 2018-09-30 | 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. |