ClinVar Miner

Submissions for variant NM_152641.4(ARID2):c.3411_3412del (p.Gly1139fs)

dbSNP: rs1555155252
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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 RCV000520055 SCV001712997 pathogenic Coffin-Siris syndrome 6 2021-01-01 criteria provided, single submitter clinical testing
OMIM RCV000520055 SCV000616355 pathogenic Coffin-Siris syndrome 6 2017-12-13 no assertion criteria provided literature only

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