Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Blueprint Genetics | RCV000788760 | SCV000927993 | uncertain significance | not provided | 2018-10-16 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000788760 | SCV002588257 | uncertain significance | not provided | 2022-04-26 | criteria provided, single submitter | clinical testing | Not observed at significant frequency 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: 30384889) |