ClinVar Miner

Submissions for variant NM_001232.4(CASQ2):c.320-18C>T

gnomAD frequency: 0.00032  dbSNP: rs376871374
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000422528 SCV000512480 benign not specified 2015-09-29 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 RCV002524756 SCV002327923 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2025-01-22 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002488873 SCV002794662 likely benign Catecholaminergic polymorphic ventricular tachycardia 1; Catecholaminergic polymorphic ventricular tachycardia 2 2021-09-29 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003338581 SCV004048962 benign Catecholaminergic polymorphic ventricular tachycardia 2 2023-04-11 criteria provided, single submitter clinical testing

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