ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.46823T>C (p.Leu15608Ser) (rs397517588)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000040275 SCV000063966 uncertain significance not specified 2012-06-11 criteria provided, single submitter clinical testing The Leu13040Ser variant in TTN has not been reported in the literature nor previ ously identified by our laboratory. Computational analyses (biochemical amino ac id properties, conservation, AlignGVGD, PolyPhen2, and SIFT) do not provide stro ng support for or against pathogenicity. Additional information is needed to ful ly assess the clinical significance of this variant.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000724839 SCV000331988 uncertain significance not provided 2015-06-29 criteria provided, single submitter clinical testing
GeneDx RCV000724839 SCV000984328 likely benign not provided 2020-06-05 criteria provided, single submitter clinical testing
Invitae RCV001078812 SCV001012480 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2019-12-31 criteria provided, single submitter clinical testing

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