Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics | RCV000517230 | SCV000612572 | likely benign | not specified | 2024-09-16 | criteria provided, single submitter | clinical testing | |
Diagnostic Laboratory, |
RCV001528777 | SCV001741111 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV001528777 | SCV001930970 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001528777 | SCV001963877 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Laboratory of Diagnostic Genome Analysis, |
RCV001528777 | SCV002036118 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Prevention |
RCV003985373 | SCV004782251 | likely benign | CACNA1A-related disorder | 2022-08-30 | no assertion criteria provided | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |