ClinVar Miner

Submissions for variant NM_024577.3(SH3TC2):c.3326G>C (p.Arg1109Pro) (rs80338935)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneReviews RCV000020896 SCV000041495 pathologic Charcot-Marie-Tooth disease, type 4C 2008-03-31 no assertion criteria provided curation Converted during submission to Pathogenic.
Inherited Neuropathy Consortium RCV000790208 SCV000929600 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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