ClinVar Miner

Submissions for variant NM_000918.4(P4HB):c.1199_1200delinsTT (p.Cys400Phe)

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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, Cologne University RCV003108241 SCV003761553 uncertain significance Cole-Carpenter syndrome 1 2021-07-08 criteria provided, single submitter clinical testing

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