ClinVar Miner

Submissions for variant NM_133379.5(TTN):c.12990A>G (p.Arg4330=)

gnomAD frequency: 0.00086  dbSNP: rs544542600
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001718091 SCV001945471 likely benign not provided 2019-09-04 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004542092 SCV004793852 likely benign TTN-related disorder 2023-12-29 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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