ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.53287+10G>A

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002607218 SCV003506833 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2022-10-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004540581 SCV004791309 likely benign TTN-related disorder 2021-11-14 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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