ClinVar Miner

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

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 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
GeneDx RCV000723872 SCV001865639 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Clinical Genetics,Academic Medical Center RCV000244982 SCV001919787 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000244982 SCV001928246 benign not specified no assertion criteria provided clinical testing

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