ClinVar Miner

Submissions for variant NM_133379.5(TTN):c.12175T>C (p.Leu4059=)

gnomAD frequency: 0.97441  dbSNP: rs10803917
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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 RCV000041012 SCV000064703 benign not specified 2011-09-16 criteria provided, single submitter clinical testing
GeneDx RCV000041012 SCV000169553 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 RCV004707892 SCV005241372 benign not provided criteria provided, single submitter not provided
Clinical Genetics, Academic Medical Center RCV000041012 SCV001922845 benign not specified no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000041012 SCV001963592 benign not specified no assertion criteria provided clinical testing

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