ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.18379T>G (p.Cys6127Gly) (rs370812788)

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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 RCV000253515 SCV000318622 uncertain significance Cardiovascular phenotype 2013-05-24 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000726101 SCV000701229 uncertain significance not provided 2017-01-13 criteria provided, single submitter clinical testing
GeneDx RCV000215380 SCV000238252 likely benign not specified 2017-11-20 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 RCV000531491 SCV000642753 benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-05-22 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000215380 SCV000270979 likely benign not specified 2015-03-21 criteria provided, single submitter clinical testing p.Cys4883Gly in exon 60 of TTN: This variant is not expected to have clinical si gnificance because it has been identified in 0.7% (58/8346) of East Asian chromo somes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs370812788).

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