ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.11311+4672C>T (rs149748934)

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Total submissions: 6
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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 RCV000172712 SCV000051499 likely benign not provided 2013-06-24 criteria provided, single submitter research
CeGaT Praxis fuer Humangenetik Tuebingen RCV000172712 SCV000693030 uncertain significance not provided 2017-10-31 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000041034 SCV000345839 likely benign not specified 2016-09-06 criteria provided, single submitter clinical testing
GeneDx RCV000041034 SCV000238125 likely benign not specified 2017-09-14 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 RCV000041034 SCV000064725 likely benign not specified 2015-09-10 criteria provided, single submitter clinical testing p.Pro4650Ser in exon 45A of TTN: This variant is not expected to have clinical s ignificance because it has been identified in 0.3% (209/66040) of European chrom osomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org ; dbSNP rs149748934).
Phosphorus, Inc. RCV000578000 SCV000679947 likely benign Distal myopathy Markesbery-Griggs type 2017-08-01 criteria provided, single submitter clinical testing

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