ClinVar Miner

Submissions for variant NM_014845.5(FIG4):c.447-16G>T (rs200890189)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000250853 SCV000312230 likely benign not specified criteria provided, single submitter clinical testing
Molecular Genetics Laboratory,London Health Sciences Centre RCV001173535 SCV001336625 benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Invitae RCV001518241 SCV001726899 benign Charcot-Marie-Tooth disease type 4 2020-12-03 criteria provided, single submitter clinical testing
GeneDx RCV001579913 SCV001831089 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001579913 SCV001809001 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics,Academic Medical Center RCV000250853 SCV001922417 benign not specified no assertion criteria provided clinical testing

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