ClinVar Miner

Submissions for variant NM_024577.3(SH3TC2):c.920G>A (p.Trp307Ter) (rs80338921)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneReviews RCV000020899 SCV000041499 pathologic Charcot-Marie-Tooth disease, type 4C 2008-03-31 no assertion criteria provided curation Converted during submission to Pathogenic.
Inherited Neuropathy Consortium RCV000789562 SCV000928918 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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