ClinVar Miner

Submissions for variant NM_014822.4(SEC24D):c.1055T>A (p.Leu352Ter)

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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 RCV003445422 SCV004174145 likely pathogenic Cole-Carpenter syndrome 2 2020-08-17 criteria provided, single submitter clinical testing

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