Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV001841068 | SCV001356256 | likely benign | Cardiac arrhythmia | 2019-08-12 | criteria provided, single submitter | clinical testing | |
Phosphorus, |
RCV001823763 | SCV002073415 | likely benign | not specified | 2022-01-17 | criteria provided, single submitter | clinical testing | This synonymous variant has occurred in GnomAD with a total MAF of 0.0008% and with the highest MAF of 0.0018% in the European population. This position is not conserved. In silico splicing algorithm predicted no impact on splicing, but no functional studies were performed to confirm this prediction. This variant NM_000335.5(SCN5A):c.423C>T (p.Ile141=) is present in the ClinVar database (ID: 926464). The variant has not occurred in the literature in association with the disease. Considering that the variant has a relatively high frequency in a subpopulation, it has been classified as Likely Benign. |