ClinVar Miner

Submissions for variant NM_015692.5(CPAMD8):c.2066T>C (p.Phe689Ser)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MVZ Medizinische Genetik Mainz RCV003494527 SCV004244306 uncertain significance Anterior segment dysgenesis 8 2022-10-12 criteria provided, single submitter clinical testing

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