ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.101245G>A (p.Val33749Met) (rs201554140)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000620304 SCV000736131 likely benign Cardiovascular phenotype 2017-09-14 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Other strong data supporting benign classification
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000040903 SCV000333157 benign not specified 2015-07-15 criteria provided, single submitter clinical testing
GeneDx RCV000040903 SCV000237891 likely benign not specified 2017-08-28 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 RCV000226035 SCV000286389 benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-12-22 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000040903 SCV000064594 likely benign not specified 2015-06-05 criteria provided, single submitter clinical testing p.Val31181Met in exon 307 of TTN: This variant is not expected to have clinical significance because it has been identified in 0.8% (76/9802) of African chromos omes by the Exome Aggregation Consortium (ExAC,; dbSNP rs201554140).

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