Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000760574 | SCV000890465 | pathogenic | not provided | 2018-06-04 | criteria provided, single submitter | clinical testing | The W696X variant in the EMC1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The W696X variant is not observed in large population cohorts (Lek et al., 2016). We interpret W696X as a pathogenic variant. |
Genome |
RCV000845001 | SCV000986831 | not provided | EMC1-Related Disorder | no assertion provided | phenotyping only | Variant interpretted as pathogenic and reported on 06/18/2018 by GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant. |