ClinVar Miner

Submissions for variant NM_001083962.2(TCF4):c.667A>G (p.Ser223Gly)

dbSNP: rs2146148434
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Medical Genetic Institute of Henan Province, Henan Provincial People’s Hospital RCV001814955 SCV002061000 uncertain significance Pitt-Hopkins syndrome no assertion criteria provided case-control

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