ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.11338G>A (p.Glu3780Lys) (rs727504586)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000619548 SCV000736062 uncertain significance Cardiovascular phenotype 2017-10-12 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000725267 SCV000335501 uncertain significance not provided 2015-09-22 criteria provided, single submitter clinical testing
GeneDx RCV000155759 SCV000238160 likely benign not specified 2017-12-22 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.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000155759 SCV000205470 likely benign not specified 2018-10-24 criteria provided, single submitter clinical testing The p.Glu3542Lys variant in TTN is classified as likely benign because it has be en identified in 0.03% (4/11658) of East Asian chromosomes by gnomAD (http://gno mad.broadinstitute.org). ACMG/AMP Criteria applied: BS1.

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