ClinVar Miner

Submissions for variant NM_005184.4(CALM3):c.178+18C>T

gnomAD frequency: 0.00115  dbSNP: rs180722019
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000603084 SCV000718977 likely benign not specified 2017-12-20 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 RCV002063210 SCV002447627 benign Long QT syndrome 1 2024-01-29 criteria provided, single submitter clinical testing

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