ClinVar Miner

Submissions for variant NM_133433.4(NIPBL):c.1811_1812del (p.Lys603_Ser604insTer)

dbSNP: rs1057518944
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000414869 SCV000492990 likely pathogenic Cryptorchidism; Fetal growth restriction; Pulmonary hypoplasia; Single umbilical artery; Penile hypospadias; Microretrognathia; Long philtrum; Congenital diaphragmatic hernia; Right ventricular hypertrophy 2014-09-18 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001196333 SCV001366928 likely pathogenic Cornelia de Lange syndrome 1 2016-01-01 criteria provided, single submitter clinical testing This variant was classified as: Likely pathogenic.

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