Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000595669 | SCV000707320 | uncertain significance | not provided | 2018-05-17 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001435395 | SCV001638216 | likely benign | Niemann-Pick disease, type C1 | 2024-01-16 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000595669 | SCV003918427 | uncertain significance | not provided | 2023-04-14 | 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 |
Mayo Clinic Laboratories, |
RCV000595669 | SCV004224466 | uncertain significance | not provided | 2023-03-29 | criteria provided, single submitter | clinical testing |