ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.14092+20del

dbSNP: rs560021681
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000478931 SCV000572408 likely benign not specified 2017-08-10 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 RCV002056806 SCV002471077 benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2025-01-16 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000478931 SCV001924836 benign not specified no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001726192 SCV001963183 likely benign not provided no assertion criteria provided clinical testing

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