ClinVar Miner

Submissions for variant NM_001232.4(CASQ2):c.421-20A>T

gnomAD frequency: 0.00011  dbSNP: rs201559752
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000829292 SCV000971008 likely benign not provided 2018-05-30 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV002538274 SCV002375952 benign Catecholaminergic polymorphic ventricular tachycardia 1 2025-01-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003338826 SCV004048949 benign Catecholaminergic polymorphic ventricular tachycardia 2 2023-04-11 criteria provided, single submitter clinical testing

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