Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000647269 | SCV000769058 | likely benign | Brugada syndrome 8 | 2023-11-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001562046 | SCV001784753 | likely benign | not provided | 2021-05-04 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002440333 | SCV002746747 | uncertain significance | Cardiovascular phenotype | 2023-02-22 | criteria provided, single submitter | clinical testing | The c.2830G>A (p.A944T) alteration is located in exon 8 (coding exon 8) of the HCN4 gene. This alteration results from a G to A substitution at nucleotide position 2830, causing the alanine (A) at amino acid position 944 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |