ClinVar Miner

Submissions for variant NM_024577.3(SH3TC2):c.2581C>T (p.Arg861Trp) (rs147490172)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000399648 SCV000336457 uncertain significance not provided 2015-10-21 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory,London Health Sciences Centre RCV001174037 SCV001337157 uncertain significance Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing

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