ClinVar Miner

Submissions for variant NM_014845.5(FIG4):c.647-18C>A (rs2273752)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000253420 SCV000312231 benign not specified criteria provided, single submitter clinical testing
Molecular Genetics Laboratory,London Health Sciences Centre RCV001173528 SCV001336618 benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Invitae RCV001513754 SCV001721427 benign Charcot-Marie-Tooth disease type 4 2020-11-20 criteria provided, single submitter clinical testing
GeneDx RCV001689872 SCV001906813 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000253420 SCV001744192 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000253420 SCV001808935 benign not specified no assertion criteria provided clinical testing
Clinical Genetics,Academic Medical Center RCV000253420 SCV001917531 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000253420 SCV001931210 benign not specified no assertion criteria provided clinical testing

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