ClinVar Miner

Submissions for variant NM_006941.4(SOX10):c.953dup (p.Tyr318Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues RCV003315175 SCV004014798 likely pathogenic Waardenburg syndrome type 2E 2023-04-21 criteria provided, single submitter clinical testing

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