ClinVar Miner

Submissions for variant NM_024577.4(SH3TC2):c.1178-1G>A

dbSNP: rs80338922
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CMT Laboratory, Bogazici University RCV000020886 SCV001548311 pathogenic Charcot-Marie-Tooth disease type 4C 2020-12-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005042074 SCV005670641 likely pathogenic Charcot-Marie-Tooth disease type 4C; Susceptibility to mononeuropathy of the median nerve, mild 2024-01-05 criteria provided, single submitter clinical testing
Inherited Neuropathy Consortium RCV000789563 SCV000928919 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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