ClinVar Miner

Submissions for variant NM_133379.5(TTN):c.16142G>A (p.Arg5381His)

dbSNP: rs369189673
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000732969 SCV000860971 likely benign not specified 2018-04-27 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004540068 SCV004765011 likely benign TTN-related disorder 2020-07-13 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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