Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001553390 | SCV001774250 | likely pathogenic | not provided | 2019-04-29 | criteria provided, single submitter | clinical testing | Identified in family with HM and BFIS and found to segregrate with BFIS phenotype (Pelzer et al., 2014); 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: 32613771, 31154286, 12953268, 9579893, 24928127) |
OMIM | RCV000161142 | SCV000211868 | pathogenic | Seizures, benign familial infantile, 2 | 2014-07-15 | no assertion criteria provided | literature only |