Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000618286 | SCV000737461 | uncertain significance | Cardiovascular phenotype | 2023-12-17 | criteria provided, single submitter | clinical testing | The c.656C>T (p.P219L) alteration is located in exon 7 (coding exon 7) of the CACNB2 gene. This alteration results from a C to T substitution at nucleotide position 656, causing the proline (P) at amino acid position 219 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Fulgent Genetics, |
RCV002499000 | SCV002792780 | uncertain significance | Brugada syndrome 4 | 2021-10-25 | criteria provided, single submitter | clinical testing |