Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000657797 | SCV000338420 | pathogenic | not provided | 2015-12-21 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000657797 | SCV000779550 | likely pathogenic | not provided | 2018-05-18 | criteria provided, single submitter | clinical testing | The L52X variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The L52X variant is not observed in large population cohorts (Lek et al., 2016). The L52X nonsense variant in the NDP gene is predicted to cause loss of normal protein function through protein truncation. Specifically, the last 82 amino acids are predicted to be lost. Therefore, this variant is likely pathogenic |
Laboratorio de Genetica e Diagnostico Molecular, |
RCV002244734 | SCV002512779 | likely pathogenic | Atrophia bulborum hereditaria | 2021-05-18 | criteria provided, single submitter | clinical testing | ACMG classification criteria: PVS1 strong, PM2 moderate |