Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV002225267 | SCV002504390 | likely pathogenic | not provided | 2022-03-06 | criteria provided, single submitter | clinical testing | Published functional studies demonstrate reduced enzymatic activity and deficient protein stability (Fang et al., 2012; Rainger et al., 2012); 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: 23216091, 22692683, 31589614, 33262786, 21346561, 19684571, 27814609, 19915526, 22967083) |
Baylor Genetics | RCV000018291 | SCV003836135 | likely pathogenic | Miller syndrome | 2022-03-23 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000018291 | SCV000038570 | pathogenic | Miller syndrome | 2010-01-01 | no assertion criteria provided | literature only |