ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.106121T>A (p.Phe35374Tyr) (rs727504609)

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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 RCV000155862 SCV000205573 uncertain significance not specified 2013-06-26 criteria provided, single submitter clinical testing The Phe32806Tyr variant in TTN has not been reported in individuals with cardiom yopathy or in large population studies. Computational analyses (biochemical amin o acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) do not provide strong support for or against an impact to the protein. Additional information is needed to fully assess the clinical significance of this variant.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000724768 SCV000229371 uncertain significance not provided 2015-04-22 criteria provided, single submitter clinical testing
GeneDx RCV000724768 SCV000237957 likely benign not provided 2021-05-20 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 29263846)
Invitae RCV001085039 SCV000764698 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2020-11-15 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000724768 SCV001152566 uncertain significance not provided 2018-06-01 criteria provided, single submitter clinical testing

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