ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.107134A>C (p.Asn35712His) (rs727504949)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000156352 SCV000206070 uncertain significance not specified 2014-03-14 criteria provided, single submitter clinical testing The Asn33144His variant in TTN has not been reported in individuals with cardiom yopathy or in large population studies. Computational prediction tools and conse rvation analysis do not provide strong support for or against an impact to the p rotein. Additional information is needed to fully assess the clinical significan ce of the Asn33144His variant.
GeneDx RCV000156352 SCV000237973 likely benign not specified 2016-06-16 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.

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