ClinVar Miner

Submissions for variant NM_001144967.3(NEDD4L):c.2082G>T (p.Gln694His)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Chelly Lab, Institut de Génétique et de Biologie Moléculaire et Cellulaire, Strasbourg University - CNRS UMR 7104 - Inserm U 964 RCV000239730 SCV000267108 pathogenic Periventricular nodular heterotopia with syndactyly, cleft palate and developmental delay 2016-04-06 no assertion criteria provided research
OMIM RCV000258902 SCV000328667 pathogenic Periventricular nodular heterotopia 7 2016-11-16 no assertion criteria provided literature only

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