ClinVar Miner

Submissions for variant NM_001374828.1(ARID1B):c.5395-2A>C

dbSNP: rs1562350940
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
Génétique des Maladies du Développement, Hospices Civils de Lyon RCV000760273 SCV000890111 likely pathogenic Coffin-Siris syndrome 1 2018-01-10 criteria provided, single submitter clinical testing

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