ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.27847G>A (p.Val9283Met) (rs727504515)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000155661 SCV000205370 uncertain significance not specified 2013-04-21 criteria provided, single submitter clinical testing The Val8039Met variant in TTN has not been reported in individuals with cardiomy opathy or in large population studies. Computational analyses (biochemical amino acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) do not provide s trong 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 RCV000724980 SCV000332884 uncertain significance not provided 2017-10-27 criteria provided, single submitter clinical testing
GeneDx RCV000724980 SCV000719826 likely benign not provided 2018-07-12 criteria provided, single submitter clinical testing

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