ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.67444C>T (p.Arg22482Trp) (rs563233842)

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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 RCV000172276 SCV000051149 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000152244 SCV000201051 likely benign not specified 2014-12-17 criteria provided, single submitter clinical testing p.Arg19914Trp in exon 268 of TTN: This variant is not expected to have clinical significance it has been identified in 0.4% (65/16614) of South Asian chromosome s by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org).
Invitae RCV001082358 SCV000643561 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2020-10-05 criteria provided, single submitter clinical testing
GeneDx RCV000152244 SCV000725807 likely benign not specified 2017-12-13 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.
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000768948 SCV000900321 benign Cardiomyopathy 2017-10-30 criteria provided, single submitter clinical testing

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