ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.19715-4A>G (rs375009631)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000039930 SCV000063621 likely benign not specified 2012-03-19 criteria provided, single submitter clinical testing 15983-4A>G in intron 64 of TTN: This variant is not expected to have clinical si gnificance because it is not located within the splice consensus sequence. It ha s been identified in 1/6542 European American chromosomes from a broad populatio n by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS). 159 83-4A>G in intron 64 of TTN (allele frequency = 0.4%, 1/6542) **
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000726302 SCV000343558 uncertain significance not provided 2017-11-14 criteria provided, single submitter clinical testing
Invitae RCV001087185 SCV000765402 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2020-11-26 criteria provided, single submitter clinical testing

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