ClinVar Miner

Submissions for variant NM_003737.4(DCHS1):c.2500C>T (p.Arg834Ter)

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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 RCV002290411 SCV002581234 likely pathogenic Van Maldergem syndrome 1 2021-11-11 criteria provided, single submitter clinical testing

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