ClinVar Miner

Submissions for variant NM_024577.4(SH3TC2):c.1748G>C (p.Arg583Thr)

dbSNP: rs757781673
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory, London Health Sciences Centre RCV001173168 SCV001336248 uncertain significance Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing

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