ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.1521C>G (p.His507Gln)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003487122 SCV004239832 likely benign Cardiomyopathy 2023-04-28 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV004790575 SCV005408936 uncertain significance not provided 2024-04-02 criteria provided, single submitter clinical testing BP4

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