ClinVar Miner

Submissions for variant NM_001374828.1(ARID1B):c.2058del (p.Gln686fs)

dbSNP: rs2128210848
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 RCV001814611 SCV002060986 pathogenic Coffin-Siris syndrome 1 no assertion criteria provided case-control

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