ClinVar Miner

Submissions for variant NM_001377229.1(DISP1):c.895C>T (p.Arg299Ter)

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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 RCV002289123 SCV002581598 uncertain significance Holoprosencephaly 7 2022-03-07 criteria provided, single submitter clinical testing

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