ClinVar Miner

Submissions for variant NM_152641.4(ARID2):c.890C>T (p.Ser297Phe)

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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 Munich, Klinikum Rechts Der Isar, TU München RCV003335791 SCV004045835 likely pathogenic Coffin-Siris syndrome 6 2023-08-22 criteria provided, single submitter clinical testing

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