ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.44282-6G>A (rs372166634)

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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 RCV000216049 SCV000272649 uncertain significance not specified 2015-01-28 criteria provided, single submitter clinical testing The c.36578-6G>A variant in TTN has not been previously reported in individuals with cardiomyopathy, but has been identified in 4/9802 African chromosomes by th e Exome Aggregation Consortium (ExAC,; dbSNP rs37 2166634). In addition, this variant is located in the 3' splice region and compu tational tools do not suggest an impact to splicing. However, this information i s not predictive enough to rule out pathogenicity. In summary, the clinical sign ificance of the c.36578-6G>A variant is uncertain.
Invitae RCV000528801 SCV000643185 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2020-04-26 criteria provided, single submitter clinical testing
GeneDx RCV000216049 SCV000723099 likely benign not specified 2017-09-14 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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