ClinVar Miner

Submissions for variant NM_001374828.1(ARID1B):c.1462_1466del (p.Phe488fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin RCV002285089 SCV002574828 likely pathogenic Coffin-Siris syndrome 1 2022-09-22 criteria provided, single submitter clinical testing

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