ClinVar Miner

Submissions for variant NM_006888.6(CALM1):c.178+18A>G

gnomAD frequency: 0.00075  dbSNP: rs201018787
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000432574 SCV000532311 likely benign not specified 2017-04-20 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 RCV002059953 SCV002427788 benign Catecholaminergic polymorphic ventricular tachycardia 4; Long QT syndrome 14 2025-01-23 criteria provided, single submitter clinical testing

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