ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.6103A>T (p.Lys2035Ter) (rs1555534667)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genomics Lab,St. Jude Children's Research Hospital RCV000722019 SCV000853193 pathogenic Pilocytic astrocytoma 2016-08-26 criteria provided, single submitter clinical testing This is a nonsense alteration in which an A is replaced by a T at coding position 6103 and is predicted to change a Lysine to a premature stop codon at codon 2035. Classification criteria: PVS1, PS3, PM2, PP4.

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