Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000638658 | SCV000760196 | likely benign | Brugada syndrome | 2024-01-17 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001779031 | SCV002015812 | likely benign | not provided | 2021-05-10 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge |
Ambry Genetics | RCV004025520 | SCV004058097 | uncertain significance | not specified | 2023-08-08 | criteria provided, single submitter | clinical testing | The c.346G>A (p.A116T) alteration is located in exon 1 (coding exon 1) of the KCNE5 gene. This alteration results from a G to A substitution at nucleotide position 346, causing the alanine (A) at amino acid position 116 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |