ClinVar Miner

Submissions for variant NM_001374828.1(ARID1B):c.2714del (p.Asn905fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MGZ Medical Genetics Center RCV002288348 SCV002580563 likely pathogenic Coffin-Siris syndrome 1 2021-12-29 criteria provided, single submitter clinical testing

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