ClinVar Miner

Submissions for variant NM_001330.5(CTF1):c.145-13C>T

gnomAD frequency: 0.00013  dbSNP: rs397516646
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Total submissions: 2
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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 RCV000037151 SCV000060808 uncertain significance not specified 2012-04-27 criteria provided, single submitter clinical testing The 145-13C>T variant (CTF1) has not been reported in the literature nor previou sly identified by our laboratory. This variant is located in the 3' splice regio n. Computational tools do not predict altered splicing; however, this informatio n is not predictive enough to rule out pathogenicity. Additional studies are nee ded to fully assess the clinical significance of the 145-13C>T variant.
Labcorp Genetics (formerly Invitae), Labcorp RCV002513472 SCV002950696 likely benign Dilated Cardiomyopathy, Dominant 2024-10-21 criteria provided, single submitter clinical testing

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