Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000439983 | SCV000521363 | likely pathogenic | not provided | 2020-02-15 | criteria provided, single submitter | clinical testing | Not observed 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: 21205863) |
OMIM | RCV000034152 | SCV000045256 | pathogenic | Dyskeratosis congenita, autosomal recessive 3 | 2011-01-01 | no assertion criteria provided | literature only | |
Gene |
RCV000034152 | SCV000058089 | not provided | Dyskeratosis congenita, autosomal recessive 3 | no assertion provided | literature only |