ClinVar Miner

Submissions for variant NM_207037.2(TCF12):c.784C>T (p.Gln262Ter)

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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 RCV003581943 SCV004244499 likely pathogenic TCF12-related craniosynostosis 2023-11-16 criteria provided, single submitter clinical testing PVS1, PM2

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