Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics Inc | RCV000992831 | SCV001145392 | likely pathogenic | not provided | 2018-10-18 | criteria provided, single submitter | clinical testing | The variant creates a premature nonsense codon, and is therefore predicted to significantly disrupt the protein structure. The best available variant frequency is above the disease allele frequency but data include fewer than 10 observations. |