Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000193929 | SCV000249084 | pathogenic | Autosomal recessive ataxia, Beauce type | 2015-02-13 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV001289271 | SCV001476986 | likely pathogenic | not provided | 2020-07-15 | criteria provided, single submitter | clinical testing | The variant creates a premature nonsense codon, and is therefore predicted to result in the loss of a functional protein. Not found in the total gnomAD dataset, and the data is high quality. |