Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000545251 | SCV000632109 | benign | Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV | 2024-01-19 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV001334115 | SCV001526861 | uncertain significance | Epilepsy, childhood absence, susceptibility to, 6 | 2018-01-18 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
Athena Diagnostics | RCV001659680 | SCV001880627 | uncertain significance | not provided | 2021-02-15 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001659680 | SCV004133638 | benign | not provided | 2023-04-01 | criteria provided, single submitter | clinical testing | CACNA1H: BS1, BS2 |
OMIM | RCV000002825 | SCV000022983 | risk factor | Epilepsy, idiopathic generalized, susceptibility to, 6 | 2007-12-01 | no assertion criteria provided | literature only | |
Genome |
RCV001334115 | SCV003804795 | not provided | Epilepsy, childhood absence, susceptibility to, 6 | no assertion provided | phenotyping only | Variant interpreted as Uncertain significance and reported on 05-31-2019 by Sema4. Assertions are reported exactly as they appear on the patient provided laboratory report. GenomeConnect does not attempt to reinterpret the variant. The IDDRC-CTSA National Brain Gene Registry (BGR) is a study funded by the U.S. National Center for Advancing Translational Sciences (NCATS) and includes 13 Intellectual and Developmental Disability Research Center (IDDRC) institutions. The study is led by Principal Investigator Philip Payne PhD, FACMI from Washington University. The BGR is a data commons of gene variants paired with subject clinical information. This database helps scientists learn more about genetic changes and their impact on the brain and behavior. Participation in the Brain Gene Registry requires participation in GenomeConnect. More information about the Brain Gene Registry can be found on the study website - https://braingeneregistry.wustl.edu/. | |
Prevention |
RCV004532275 | SCV004753287 | likely benign | CACNA1H-related disorder | 2020-04-11 | 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). |