ClinVar Miner

Submissions for variant NM_181789.4(GLDN):c.1305G>A (p.Trp435Ter)

gnomAD frequency: 0.00001  dbSNP: rs775011495
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Total submissions: 4
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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 RCV000578440 SCV000680245 pathogenic Lethal congenital contracture syndrome 11 2017-12-09 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000627011 SCV000747714 likely pathogenic Polyhydramnios; Congenital contracture; Breathing dysregulation 2017-01-01 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000627012 SCV000747715 likely pathogenic Flexion contracture 2017-01-01 criteria provided, single submitter clinical testing
Center of Genomic medicine, Geneva, University Hospital of Geneva RCV000578440 SCV000840416 pathogenic Lethal congenital contracture syndrome 11 2018-01-12 criteria provided, single submitter clinical testing This variant was identified in a homozygous state in two newborn babies deceased shortly after birth. Both parents are heterozygous carriers of this variant.

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