Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics Inc | RCV000713116 | SCV000843687 | uncertain significance | not provided | 2017-10-06 | criteria provided, single submitter | clinical testing | |
3billion | RCV003152729 | SCV003841383 | uncertain significance | Hyperkalemic periodic paralysis | 2023-02-23 | criteria provided, single submitter | clinical testing | The variant is not observed in the gnomAD v2.1.1 dataset. Missense changes are a common disease-causing mechanism. In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.79; 3Cnet: 0.45). Therefore, this variant is classified as VUS according to the recommendation of ACMG/AMP guideline. |