ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.39085C>A (p.Pro13029Thr) (rs397517553)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000040188 SCV000063879 likely benign not specified 2015-03-11 criteria provided, single submitter clinical testing p.Pro10595Thr in exon 156 of TTN: This variant is not expected to have clinical significance because it has been identified in 0.6% (101/16512) of South Asian c hromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute .org; dbSNP rs397517553).
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000040188 SCV000226382 likely benign not specified 2014-12-23 criteria provided, single submitter clinical testing
GeneDx RCV000040188 SCV000236756 benign not specified 2018-01-08 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 RCV000465574 SCV000555570 benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2020-11-17 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV001170386 SCV001332963 benign Cardiomyopathy 2017-12-08 criteria provided, single submitter clinical testing

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