Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001008745 | SCV001168526 | likely pathogenic | not provided | 2019-02-14 | criteria provided, single submitter | clinical testing | The L1418X variant in the STRC 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 L1418X variant is not observed in large population cohorts (Lek et al., 2016). We interpret L1418X as a likely pathogenic variant. |
Center For Human Genetics And Laboratory Diagnostics, |
RCV001250803 | SCV001426286 | pathogenic | Autosomal recessive nonsyndromic hearing loss 16 | 2020-01-15 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001250803 | SCV002762966 | pathogenic | Autosomal recessive nonsyndromic hearing loss 16 | criteria provided, single submitter | clinical testing |