ClinVar Miner

Submissions for variant NM_001394372.1(BICRA):c.2434C>T (p.Arg812Cys)

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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 RCV002289140 SCV002578924 uncertain significance Coffin-Siris syndrome 12 2022-04-26 criteria provided, single submitter clinical testing

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