ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.11311+2573T>C (rs72647897)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000172719 SCV000051497 likely benign not provided 2013-06-24 criteria provided, single submitter research
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000041010 SCV000702534 likely benign not specified 2016-10-18 criteria provided, single submitter clinical testing
GeneDx RCV000041010 SCV000238101 likely benign not specified 2017-12-15 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.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000041010 SCV000064701 likely benign not specified 2015-08-06 criteria provided, single submitter clinical testing p.Ile3950Thr in exon 45A of TTN: This variant is not expected to have clinical s ignificance because it has been identified in 0.3% (155/65108) of European chrom osomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.or g; dbSNP rs72647897).

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