ClinVar Miner

Submissions for variant NM_021964.3(ZNF148):c.1630_1631del (p.Leu544fs)

dbSNP: rs1579576029
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV000995681 SCV001149990 pathogenic Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies 2019-11-06 criteria provided, single submitter clinical testing
Génétique des Maladies du Développement, Hospices Civils de Lyon RCV001450050 SCV001653678 pathogenic Intellectual disability 2021-05-31 criteria provided, single submitter clinical testing de novo truncating variant absent from gnomAD

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