ClinVar Miner

Submissions for variant NM_001256850.1(TTN):c.52340-4C>T (rs373552048)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000727743 SCV000855117 uncertain significance not provided 2017-11-27 criteria provided, single submitter clinical testing
GeneDx RCV000152284 SCV000728639 likely benign not specified 2017-01-18 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 RCV000460165 SCV000555117 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-06-28 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000152284 SCV000201141 likely benign not specified 2012-03-19 criteria provided, single submitter clinical testing 49559-4C>T in intron 242 of TTN: This variant is not expected to have clinical s ignificance because it is not located within the splice consensus sequence. It h as been identified in 0.1% (3/3188) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/ EVS). 49559-4C>T in intron 242 of TTN (allele frequency = 0.1%, 3/3188) **

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