Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000442177 | SCV000520931 | uncertain significance | not provided | 2020-06-18 | criteria provided, single submitter | clinical testing | Not observed at a significant frequency in large population cohorts (Lek et al., 2016); 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: 22622422) |
OMIM | RCV000144913 | SCV000191915 | pathogenic | Acral peeling skin syndrome | 2012-10-01 | no assertion criteria provided | literature only |