ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.39282T>C (p.Ser13094=)

gnomAD frequency: 0.00001  dbSNP: rs773883685
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000504300 SCV000597655 likely benign not specified 2016-03-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003766856 SCV004578242 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-09-12 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004541571 SCV004780462 likely benign TTN-related disorder 2023-08-24 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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