ClinVar Miner

Submissions for variant NM_030962.3(SBF2):c.4571-6C>T (rs2645029)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000249680 SCV000314751 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000349837 SCV000375040 benign Charcot-Marie-Tooth disease type 4 2016-06-14 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000249680 SCV000615014 benign not specified 2017-07-12 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000613689 SCV000733119 benign Charcot-Marie-Tooth disease, type 4B2 no assertion criteria provided clinical testing

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