Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000270823 | SCV000333323 | uncertain significance | not provided | 2015-08-10 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000270823 | SCV001676597 | likely benign | not provided | 2024-01-27 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000270823 | SCV001772907 | uncertain significance | not provided | 2023-07-18 | 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, |
RCV001277330 | SCV001464272 | uncertain significance | Usher syndrome type 1B | 2020-04-17 | no assertion criteria provided | clinical testing |