ClinVar Miner

Submissions for variant NM_001374828.1(ARID1B):c.7052C>A (p.Ser2351Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Pediatrics, Taizhou Central Hospital, Taizhou University Hospital RCV004556168 SCV005045300 likely pathogenic Coffin-Siris syndrome 1 2024-02-01 no assertion criteria provided clinical testing

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