Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000725882 | SCV000340229 | uncertain significance | not provided | 2016-03-24 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000725882 | SCV000521006 | likely benign | not provided | 2019-03-13 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 20837964, 27884173) |
Invitae | RCV001069865 | SCV001235062 | likely benign | Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 | 2023-11-06 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000725882 | SCV001477015 | uncertain significance | not provided | 2020-01-15 | criteria provided, single submitter | clinical testing |