ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.69083C>T (p.Thr23028Met)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003142902 SCV003821670 uncertain significance not provided 2019-04-05 criteria provided, single submitter clinical testing
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center RCV003389270 SCV004101036 likely benign Myopathy, myofibrillar, 9, with early respiratory failure 2023-11-07 criteria provided, single submitter clinical testing

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