ClinVar Miner

Submissions for variant NM_024577.4(SH3TC2):c.54dup (p.Lys19Ter)

dbSNP: rs1580917136
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CMT Laboratory, Bogazici University RCV001353166 SCV001548327 pathogenic Charcot-Marie-Tooth disease type 4C 2020-12-01 criteria provided, single submitter clinical testing
Genesis Genome Database RCV000857161 SCV000999742 uncertain significance Charcot-Marie-Tooth disease 2019-08-14 no assertion criteria provided research

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