ClinVar Miner

Submissions for variant NM_024577.3(SH3TC2):c.1240G>A (p.Val414Met) (rs138303846)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000702085 SCV000830919 likely benign Charcot-Marie-Tooth disease type 4 2020-11-27 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV001092865 SCV001249579 uncertain significance not provided 2019-12-01 criteria provided, single submitter clinical testing

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