ClinVar Miner

Submissions for variant NM_172362.3(KCNH1):c.1123G>A (p.Gly375Arg) (rs730882174)

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Total submissions: 2
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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 RCV000190319 SCV000212225 pathogenic Zimmermann-Laband syndrome 1 no assertion criteria provided not provided Converted during submission to Pathogenic.
OMIM RCV000190319 SCV000238502 pathogenic Zimmermann-Laband syndrome 1 2015-06-01 no assertion criteria provided literature only

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