ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.38380+21_38380+23del

dbSNP: rs139167585
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000833869 SCV000975634 benign not provided 2018-06-14 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.
Institute of Human Genetics, University of Wuerzburg RCV004596363 SCV005088661 benign Hypertrophic cardiomyopathy 2 no assertion criteria provided clinical testing

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