Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000488982 | SCV000577526 | likely benign | not provided | 2020-06-22 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Ambry Genetics | RCV000624453 | SCV000742215 | uncertain significance | Inborn genetic diseases | 2017-03-07 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001364368 | SCV001560513 | likely benign | Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 | 2023-12-06 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000488982 | SCV003830276 | uncertain significance | not provided | 2021-02-10 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000488982 | SCV004565225 | uncertain significance | not provided | 2023-11-03 | criteria provided, single submitter | clinical testing |