ClinVar Miner

Submissions for variant NM_014159.7(SETD2):c.1321C>T (p.Arg441Ter)

dbSNP: rs1293916143
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Total submissions: 1
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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 RCV001293749 SCV001480502 likely pathogenic Acute megakaryoblastic leukemia without down syndrome 2020-09-01 criteria provided, single submitter clinical testing

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