ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.35409T>G (p.Ile11803Met)

gnomAD frequency: 0.00129  dbSNP: rs186992412
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV004799559 SCV001468751 uncertain significance Dilated cardiomyopathy 1G; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9 2019-07-12 criteria provided, single submitter clinical testing
Athena Diagnostics RCV001289368 SCV001477129 benign not specified 2020-02-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005225348 SCV005869661 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2025-01-30 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004531054 SCV004732243 likely benign TTN-related disorder 2022-06-23 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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