Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000483466 | SCV000568528 | benign | not provided | 2020-12-14 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 23103419, 29062094) |
Invitae | RCV001079731 | SCV001034729 | likely benign | Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 | 2024-01-05 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002367632 | SCV002663396 | likely benign | Inborn genetic diseases | 2018-06-22 | 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 |
RCV000483466 | SCV002822523 | benign | not provided | 2022-11-01 | criteria provided, single submitter | clinical testing | CACNA1A: BS1, BS2 |