ClinVar Miner

Submissions for variant NM_024577.4(SH3TC2):c.1001+1G>A

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV004554974 SCV005043806 likely pathogenic Charcot-Marie-Tooth disease type 4C 2024-01-03 criteria provided, single submitter clinical testing PVS1, PM2, PM3

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