Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000177023 | SCV000228832 | uncertain significance | not provided | 2014-07-09 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000177023 | SCV001596643 | likely benign | not provided | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000177023 | SCV001794021 | uncertain significance | not provided | 2021-10-13 | 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 |
Natera, |
RCV001278603 | SCV001465631 | uncertain significance | Usher syndrome type 1B | 2020-04-16 | no assertion criteria provided | clinical testing |