ClinVar Miner

Submissions for variant NM_001330.5(CTF1):c.*5C>A

gnomAD frequency: 0.00013  dbSNP: rs397516644
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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 RCV000037147 SCV000060804 uncertain significance not specified 2013-04-05 criteria provided, single submitter clinical testing The *5C>A variant in CTF1 has not been reported in the literature nor previously identified by our laboratory. This variant occurs in the 3' untranslated region (3' UTR) and does not affect the coding sequence of the gene. Additional inform ation is needed to fully assess the clinical significance of this variant.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000770523 SCV000901969 uncertain significance Cardiomyopathy 2016-04-12 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003934905 SCV004755241 likely benign CTF1-related disorder 2019-06-24 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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