Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000543928 | SCV000632123 | benign | Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000711085 | SCV000841412 | benign | not provided | 2019-06-06 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000711085 | SCV001149631 | benign | not provided | 2024-02-01 | criteria provided, single submitter | clinical testing | CACNA1H: BS1, BS2 |
Gene |
RCV000711085 | SCV001824311 | likely benign | not provided | 2020-06-03 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 17696120, 25525159, 26706850) |
Laboratory of Diagnostic Genome Analysis, |
RCV000711085 | SCV001798192 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV000711085 | SCV001927668 | likely benign | not provided | no assertion criteria provided | clinical testing |