ClinVar Miner

Submissions for variant NM_001374828.1(ARID1B):c.2025C>G (p.Tyr675Ter)

dbSNP: rs773640553
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV002226564 SCV002505523 likely pathogenic Coffin-Siris syndrome 1 2022-04-19 criteria provided, single submitter clinical testing _x000D_ Criteria applied: PVS1, PM2_SUP

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