ClinVar Miner

Submissions for variant NM_024577.4(SH3TC2):c.1894_1897delinsAAA (p.Glu632fs)

dbSNP: rs1580900758
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV003388840 SCV004100766 pathogenic Charcot-Marie-Tooth disease type 4C 2023-10-10 criteria provided, single submitter clinical testing Criteria applied: PVS1,PM2_SUP,PM3_SUP
Inherited Neuropathy Consortium RCV000789572 SCV000928928 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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