ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.32555-6T>C (rs375742678)

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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 RCV000040140 SCV000063831 likely benign not specified 2012-04-18 criteria provided, single submitter clinical testing 28823-6T>C in intron 127 of TTN: This variant is not expected to have clinical s ignificance because it has been identified in 0.4% (12/2952) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http :// 28823-6T>C in intron 127 of TTN (allele frequenc y = 0.4%, 12/2952) **
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000040140 SCV000333099 likely benign not specified 2015-07-29 criteria provided, single submitter clinical testing
GeneDx RCV000040140 SCV000515113 likely benign not specified 2017-10-23 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 RCV000463138 SCV000555435 benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2020-12-03 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000040140 SCV001476337 benign not specified 2020-02-17 criteria provided, single submitter clinical testing

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