ClinVar Miner

Submissions for variant NM_133379.5(TTN):c.11133A>G (p.Thr3711=)

gnomAD frequency: 0.97439  dbSNP: rs922986
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Total submissions: 5
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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 RCV000041002 SCV000064693 benign not specified 2011-09-16 criteria provided, single submitter clinical testing
GeneDx RCV000041002 SCV000169547 benign not specified 2014-01-21 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.
Breakthrough Genomics, Breakthrough Genomics RCV004707890 SCV005241375 benign not provided criteria provided, single submitter not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000041002 SCV001744895 benign not specified no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000041002 SCV001924500 benign not specified no assertion criteria provided clinical testing

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