ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.28741A>G (p.Ile9581Val) (rs371826762)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000725082 SCV000333862 uncertain significance not provided 2018-01-09 criteria provided, single submitter clinical testing
GeneDx RCV000154967 SCV000238399 likely benign not specified 2016-06-20 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 RCV000464747 SCV000543136 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-06-13 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000154967 SCV000204649 likely benign not specified 2016-03-03 criteria provided, single submitter clinical testing p.Ile8337Val in exon 96 of TTN: This variant is not expected to have clinical si gnificance due to a lack of conservation across species, including mammals. Of n ote, 9 mammals have a valine (Val) at this position despite high nearby amino ac id conservation. Computational tools suggest this variant may introduce a novel splice site; however, this information is not predictive enough to determine pat hogenicity. This variant has also been identified in 16/65898 European chromosom es by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; d bSNP rs371826762).
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000660516 SCV000782616 uncertain significance Limb-girdle muscular dystrophy, type 2J 2017-03-10 criteria provided, single submitter clinical testing

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