ClinVar Miner

Submissions for variant NM_001232.4(CASQ2):c.333A>G (p.Glu111=)

gnomAD frequency: 0.00001  dbSNP: rs727502910
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000150230 SCV000197213 likely benign not specified 2014-07-24 criteria provided, single submitter clinical testing Glu111Glu in exon 3 of CASQ2: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. Glu111Glu in exon 3 of CASQ2 (allele frequen cy = n/a)
Labcorp Genetics (formerly Invitae), Labcorp RCV002514886 SCV002395163 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2024-05-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003338426 SCV004048959 likely benign Catecholaminergic polymorphic ventricular tachycardia 2 2023-04-11 criteria provided, single submitter clinical testing

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