ClinVar Miner

Submissions for variant NM_024577.3(SH3TC2):c.2829T>G (p.Tyr943Ter) (rs80338932)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000002585 SCV000022743 pathogenic Charcot-Marie-Tooth disease, type 4C 2003-11-01 no assertion criteria provided literature only
GeneReviews RCV000002585 SCV000041491 pathologic Charcot-Marie-Tooth disease, type 4C 2008-03-31 no assertion criteria provided curation Converted during submission to Pathogenic.

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