Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV003165941 | SCV003915407 | likely pathogenic | not provided | 2023-03-21 | criteria provided, single submitter | clinical testing | Not observed in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 30614526, 25525159, 20177705, 29039417, Yu2020[article], 35951741) |
Laboratory of Medical Genetics |
RCV000735934 | SCV000839571 | pathogenic | Bardet-Biedl syndrome | 2018-09-15 | no assertion criteria provided | provider interpretation |