ClinVar Miner

Submissions for variant NM_000371.3(TTR):c.336+19G>A (rs75517067)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000030573 SCV000053248 likely benign Amyloidogenic transthyretin amyloidosis 2011-08-18 criteria provided, single submitter curation Converted during submission to Likely benign.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000723872 SCV000203764 uncertain significance not provided 2013-12-18 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000244982 SCV000303885 likely benign not specified criteria provided, single submitter clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego RCV000030573 SCV000995464 likely benign Amyloidogenic transthyretin amyloidosis 2019-05-20 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory,London Health Sciences Centre RCV001173305 SCV001336389 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing

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