Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000728376 | SCV000293913 | uncertain significance | not provided | 2020-07-29 | 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 |
Invitae | RCV001080041 | SCV000649381 | likely benign | Neuropathy, hereditary sensory and autonomic, type 2A; Generalized epilepsy with febrile seizures plus, type 7 | 2024-01-16 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000728376 | SCV000855938 | uncertain significance | not provided | 2017-07-28 | criteria provided, single submitter | clinical testing |