ClinVar Miner

Submissions for variant NM_001232.4(CASQ2):c.738-5del

dbSNP: rs56889721
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000625050 SCV000743625 benign Catecholaminergic polymorphic ventricular tachycardia 2 2016-12-08 criteria provided, single submitter clinical testing
GeneDx RCV001675944 SCV001892744 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001798932 SCV002042330 benign Cardiomyopathy 2019-09-06 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000625050 SCV004050820 benign Catecholaminergic polymorphic ventricular tachycardia 2 2023-04-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003917987 SCV004729894 benign CASQ2-related disorder 2019-09-09 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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