ClinVar Miner

Submissions for variant NM_133379.5(TTN):c.10684T>G (p.Ser3562Ala)

gnomAD frequency: 0.00001  dbSNP: rs727503673
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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 RCV000152466 SCV000201573 uncertain significance not specified 2018-09-05 criteria provided, single submitter clinical testing proposed classification - variant undergoing re-assessment, contact laboratory

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