ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.97193-16T>G

gnomAD frequency: 0.00011  dbSNP: rs371317486
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000423326 SCV000515185 benign not specified 2016-02-23 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.
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001198132 SCV001368963 benign Tibial muscular dystrophy 2019-03-27 criteria provided, single submitter clinical testing This variant was classified as: Benign. The following ACMG criteria were applied in classifying this variant: BS1,BP4.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000423326 SCV002074508 uncertain significance not specified 2022-01-31 criteria provided, single submitter clinical testing
Invitae RCV002061567 SCV002340782 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-01-18 criteria provided, single submitter clinical testing

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