Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000538768 | SCV000656737 | likely benign | Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 | 2023-10-22 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001722522 | SCV000721963 | likely benign | not provided | 2021-06-12 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002438487 | SCV002750963 | likely benign | Inborn genetic diseases | 2019-10-23 | 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 |
RCV001722522 | SCV004138009 | likely benign | not provided | 2022-07-01 | criteria provided, single submitter | clinical testing | CACNA1A: BP4, BP7 |