ClinVar Miner

Submissions for variant NM_024577.3(SH3TC2):c.1A>G (p.Met1Val) (rs864309709)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000203275 SCV000256749 likely pathogenic Charcot-Marie-Tooth disease, type 4C 2013-03-11 criteria provided, single submitter research Additional SH3TC2 variant identified likely contributes to the CMT phenotype in the proband

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