ClinVar Miner

Submissions for variant NM_000302.4(PLOD1):c.1562G>A (p.Trp521Ter) (rs1057518879)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000415262 SCV000492814 pathogenic Congenital omphalocele; High palate; Depressed nasal bridge; Generalized hypotonia; Joint hypermobility; Thoracolumbar scoliosis 2015-06-15 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000626656 SCV000747358 pathogenic Short chin; Feeding difficulties; Bilateral cryptorchidism; Scrotal hypoplasia; Joint hypermobility; Generalized neonatal hypotonia 2017-01-01 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000626657 SCV000747359 pathogenic Porencephalic cyst; Hydrocephalus; Dolichocephaly; Narrow chest; Neonatal hypotonia; Umbilical hernia; Macrocephaly at birth; Severe global developmental delay 2017-01-01 criteria provided, single submitter clinical testing

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