ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.16480G>A (p.Gly5494Arg) (rs727504697)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000172405 SCV000055068 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000155975 SCV000205687 likely benign not specified 2018-06-05 criteria provided, single submitter clinical testing proposed classification - variant undergoing re-assessment, contact laboratory

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