ClinVar Miner

Submissions for variant NM_152641.4(ARID2):c.400dup (p.Gln134fs)

dbSNP: rs2138082983
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics Department, University Hospital of Angers RCV001523773 SCV001712994 pathogenic Coffin-Siris syndrome 6 2021-01-01 criteria provided, single submitter clinical testing
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV001523773 SCV004847207 likely pathogenic Coffin-Siris syndrome 6 2020-06-01 criteria provided, single submitter clinical testing

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