ClinVar Miner

Submissions for variant NM_000531.6(OTC):c.1005+11A>T

gnomAD frequency: 0.00005  dbSNP: rs375524303
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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 RCV000626697 SCV000747400 uncertain significance Global developmental delay; Hyperammonemia 2017-01-01 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001195864 SCV001366288 uncertain significance Ornithine carbamoyltransferase deficiency 2019-07-03 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: BS2.
Invitae RCV001195864 SCV002368859 benign Ornithine carbamoyltransferase deficiency 2024-01-24 criteria provided, single submitter clinical testing

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