Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001551418 | SCV001771927 | pathogenic | not provided | 2021-11-11 | criteria provided, single submitter | clinical testing | Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 28990276, 27804958, 31502745) |
OMIM | RCV000735798 | SCV000863960 | pathogenic | 8q24.3 microdeletion syndrome | 2018-12-21 | no assertion criteria provided | literature only |