ClinVar Miner

Submissions for variant NM_024577.3(SH3TC2):c.3601C>T (p.Gln1201Ter) (rs80338937)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics,Klinikum rechts der Isar RCV000020898 SCV001162824 pathogenic Charcot-Marie-Tooth disease, type 4C 2020-01-22 criteria provided, single submitter clinical testing
GeneReviews RCV000020898 SCV000041497 pathologic Charcot-Marie-Tooth disease, type 4C 2008-03-31 no assertion criteria provided curation Converted during submission to Pathogenic.

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