ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.11312-4459T>C (rs200378944)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000041062 SCV000064753 likely benign not specified 2012-03-19 criteria provided, single submitter clinical testing His5340His in exon 45A of TTN: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue, and is not located wi thin the splice consensus sequence. It has been identified in 1/7018 European Am erican chromosomes from a broad population by the NHLBI Exome Sequencing Project (;). His5340His in exon 45A of TTN (allele fre quency= 1/7018) **
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000730470 SCV000858206 uncertain significance not provided 2017-11-17 criteria provided, single submitter clinical testing

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