ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.2759C>T (p.Thr920Met)

gnomAD frequency: 0.00164  dbSNP: rs59052554
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000425498 SCV000510633 likely benign not provided 2016-12-02 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Invitae RCV001086363 SCV000632113 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2024-01-29 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000425498 SCV001143476 benign not provided 2018-11-01 criteria provided, single submitter clinical testing
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002252118 SCV002523440 likely benign See cases 2020-01-03 criteria provided, single submitter clinical testing ACMG classification criteria: BS1, BP1, BP4

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.