Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000522614 | SCV000226888 | uncertain significance | not provided | 2018-06-12 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000522614 | SCV000618356 | likely pathogenic | not provided | 2017-04-06 | criteria provided, single submitter | clinical testing | A variant that is likely pathogenic has been identified in the NRXN1 gene. The R1207X variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. It is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Therefore, the R1207X variant is likely pathogenic; however, the possibility that it is benign cannot be excluded. |
Genetics and Molecular Pathology, |
RCV002466460 | SCV002761514 | pathogenic | Pitt-Hopkins-like syndrome 2 | 2021-01-25 | criteria provided, single submitter | clinical testing | |
Dash Lab, |
RCV000787967 | SCV000914238 | likely pathogenic | Obesity | 2018-07-01 | no assertion criteria provided | research |