ClinVar Miner

Submissions for variant NM_001374828.1(ARID1B):c.3819del (p.Phe1273fs)

dbSNP: rs1554231845
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000502765 SCV000593408 pathogenic Coffin-Siris syndrome 1 2017-02-01 criteria provided, single submitter clinical testing

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