ClinVar Miner

Submissions for variant GRCh37/hg19 1p36.22(chr1:12019879-12028775)

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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 RCV000626491 SCV000747192 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
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000626494 SCV000747195 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 RCV000626495 SCV000747196 pathogenic Kyphoscoliosis; High palate; Tall stature; Bilateral cryptorchidism; Dilatation; Joint hypermobility; Mitral valve prolapse; Deep venous thrombosis; Thromboembolism 2017-01-01 criteria provided, single submitter clinical testing

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