ClinVar Miner

Submissions for variant NM_006579.3(EBP):c.312T>A (p.Tyr104Ter)

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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 RCV003227561 SCV003924028 pathogenic Chondrodysplasia punctata 2 X-linked dominant 2023-02-13 criteria provided, single submitter clinical testing

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