ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.25616G>T (p.Cys8539Phe)

dbSNP: rs550882549
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics and Genomics Program, Sidra Medicine RCV001293145 SCV001434135 likely benign Hypertrophic cardiomyopathy criteria provided, single submitter research
Athena Diagnostics RCV001664785 SCV001880233 likely benign not specified 2020-11-19 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003142230 SCV003822817 uncertain significance not provided 2022-09-09 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004545158 SCV004791167 likely benign TTN-related disorder 2022-03-21 criteria provided, single submitter 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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