ClinVar Miner

Submissions for variant NM_207037.2(TCF12):c.1838G>A (p.Arg613His)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UF de Génétique Moléculaire, Hôpital Lariboisière RCV000157617 SCV000115327 pathogenic TCF12-related craniosynostosis 2013-09-02 criteria provided, single submitter research
Baylor Genetics RCV000157617 SCV001522388 likely pathogenic TCF12-related craniosynostosis 2019-07-19 criteria provided, single submitter clinical testing This variant was determined to be likely pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].

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