Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001545665 | SCV001765042 | uncertain significance | not provided | 2020-07-02 | criteria provided, single submitter | clinical testing | Not observed in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 1307245, 22786811, 8298646, 23871722) |
OMIM | RCV000011425 | SCV000031657 | pathogenic | Atrophia bulborum hereditaria | 1992-10-01 | no assertion criteria provided | literature only |