ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.94016C>T (p.Thr31339Ile) (rs184078016)

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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 RCV000620023 SCV000737256 likely benign Cardiovascular phenotype 2017-05-10 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Other strong data supporting benign classification
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000172192 SCV000051112 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
GeneDx RCV000435407 SCV000515360 likely benign not specified 2016-11-18 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 RCV000231002 SCV000286920 benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-09-06 criteria provided, single submitter clinical testing

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