ClinVar Miner

Submissions for variant NM_172362.3(KCNH1):c.1147G>C (p.Val383Leu) (rs730882173)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Reparto di Fisiopatologia delle Malattie Genetiche, Dipartimento di Ematologia, Oncologia; Istituto Superiore di Sanità RCV000190320 SCV000212227 pathogenic Zimmermann-Laband syndrome 1 no assertion criteria provided not provided Converted during submission to Pathogenic.

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