Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000530281 | SCV000630788 | benign | Greig cephalopolysyndactyly syndrome; Pallister-Hall syndrome | 2019-12-12 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001580509 | SCV001817742 | likely benign | not provided | 2020-11-16 | 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 |