ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.5992C>T (p.Arg1998Cys)

dbSNP: rs727503692
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000152500 SCV000201656 uncertain significance not specified 2015-11-25 criteria provided, single submitter clinical testing proposed classification - variant undergoing re-assessment, contact laboratory
Mayo Clinic Laboratories, Mayo Clinic RCV004791281 SCV005408917 uncertain significance not provided 2024-06-26 criteria provided, single submitter clinical testing

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