Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001500461 | SCV001705249 | likely benign | Neuronal ceroid lipofuscinosis | 2022-10-07 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000868179 | SCV001873000 | uncertain significance | not provided | 2021-02-24 | criteria provided, single submitter | clinical testing | In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge |