ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.11311+2791G>A (rs143253411)

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Total submissions: 5
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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 RCV000041011 SCV000051503 benign not specified 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000041011 SCV000064702 benign not specified 2015-03-20 criteria provided, single submitter clinical testing p.Gly4023Arg in exon 45A of TTN: This variant is not expected to have clinical s ignificance because it has been identified in 1% (106/10394) of African chromoso mes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org/; dbSNP rs143253411).
GeneDx RCV000041011 SCV000169552 benign not specified 2014-05-12 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 RCV000549216 SCV000642633 benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2020-02-14 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV001171816 SCV001334682 likely benign not provided 2020-03-01 criteria provided, single submitter clinical testing

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