ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.98095C>T (p.Leu32699Phe)

gnomAD frequency: 0.00001  dbSNP: rs397517774
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Total submissions: 1
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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 RCV000040862 SCV000064553 uncertain significance not specified 2018-06-12 criteria provided, single submitter clinical testing proposed classification - variant undergoing re-assessment, contact laboratory

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