ClinVar Miner

Submissions for variant NM_207037.2(TCF12):c.801C>T (p.Gly267=)

dbSNP: rs2059176608
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001335664 SCV001528868 uncertain significance TCF12-related craniosynostosis 2018-11-15 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. Nonpenetrance has been reported for individuals carrying TCF12 disease-causing variants [PMID: 23354436]
CeGaT Center for Human Genetics Tuebingen RCV004809565 SCV005435596 uncertain significance not provided 2024-09-01 criteria provided, single submitter clinical testing TCF12: PM2:Supporting, PP3

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