ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.4261C>T (p.Arg1421Trp) (rs144672482)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000155012 SCV000204694 likely benign not specified 2018-10-10 criteria provided, single submitter clinical testing The p.Arg1421Trp variant in TTN is classified as likely benign because it has be en identified in 0.05% (12/24020) of African chromosomes by gnomAD (http://gnoma d.broadinstitute.org). ACMG/AMP Criteria applied: BS1.
Genetic Services Laboratory, University of Chicago RCV000155012 SCV000249261 uncertain significance not specified 2014-04-29 criteria provided, single submitter clinical testing
GeneDx RCV000155012 SCV000732059 likely benign not specified 2017-09-06 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.
Invitae RCV000643286 SCV000764973 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-11-06 criteria provided, single submitter clinical testing

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