ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.34708+9G>T (rs397517551)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000040175 SCV000063866 likely benign not specified 2012-05-24 criteria provided, single submitter clinical testing 30805+9G>T in intron 146 of TTN: This variant is not expected to have clinical s ignificance because it is not located within the splice consensus sequence. 30 805+9G>T in intron 146 of TTN (allele frequency = n/a)
GeneDx RCV000040175 SCV000531773 likely benign not specified 2017-07-10 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.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000730362 SCV000858092 uncertain significance not provided 2017-11-14 criteria provided, single submitter clinical testing
Invitae RCV001399669 SCV001601460 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2019-09-20 criteria provided, single submitter clinical testing
Clinical Genetics,Academic Medical Center RCV000040175 SCV001924947 benign not specified no assertion criteria provided clinical testing

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