ClinVar Miner

Submissions for variant NM_024577.3(SH3TC2):c.820_821insT (p.Lys274fs) (rs879253859)

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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 RCV000235051 SCV000292346 pathogenic Charcot-Marie-Tooth disease, type 4C 2015-08-18 criteria provided, single submitter research This variant is predicted deleterious according to ACMG guidelines. Homozygous frameshift leading to stopgain variant in SH3TC2 in a patient with CMT.

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