ClinVar Miner

Submissions for variant NM_015355.4(SUZ12):c.1150_1151del (p.Leu385fs)

dbSNP: rs1909527513
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV001293761 SCV001480514 likely pathogenic Acute megakaryoblastic leukemia in down syndrome 2020-09-01 criteria provided, single submitter clinical testing
GeneDx RCV003442826 SCV004167966 pathogenic not provided 2023-11-03 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge

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