Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000727072 | SCV000571447 | uncertain significance | not provided | 2022-07-18 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function |
Eurofins Ntd Llc |
RCV000727072 | SCV000705392 | uncertain significance | not provided | 2017-01-26 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001364178 | SCV001560313 | likely benign | Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 | 2023-10-03 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000727072 | SCV004137973 | uncertain significance | not provided | 2023-10-01 | criteria provided, single submitter | clinical testing | CACNA1A: PP3 |