ClinVar Miner

Submissions for variant NM_001243571.2(MTMR2):c.915C>T (p.Thr305=) (rs566204)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000250417 SCV000312611 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000374263 SCV000374995 benign Charcot-Marie-Tooth disease type 4 2016-06-14 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000576537 SCV000677359 benign Charcot-Marie-Tooth disease, type 4B1 2017-06-02 criteria provided, single submitter clinical testing
Invitae RCV000860295 SCV001000289 benign not provided 2019-03-05 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000576537 SCV000733118 benign Charcot-Marie-Tooth disease, type 4B1 no assertion criteria provided clinical testing

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