ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.24888T>C (p.Ser8296=)

gnomAD frequency: 0.00002  dbSNP: rs535603112
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000417436 SCV000527180 likely benign not specified 2016-04-25 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000471491 SCV000555061 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-07-22 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000417436 SCV000597670 likely benign not specified 2016-04-27 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001170866 SCV001333487 likely benign Cardiomyopathy 2018-03-26 criteria provided, single submitter clinical testing

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