Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000484826 | SCV000570060 | likely pathogenic | not provided | 2016-05-24 | criteria provided, single submitter | clinical testing | The R24X variant in the NFIA 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 R24X variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The R24X variant is a strong candidate for a pathogenic variant |
Fulgent Genetics, |
RCV000762957 | SCV000893395 | pathogenic | Chromosome 1p32-p31 deletion syndrome | 2018-10-31 | criteria provided, single submitter | clinical testing |