ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.1570G>T (p.Glu524Ter) (rs1135402815)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001012232 SCV001172659 pathogenic Hereditary cancer-predisposing syndrome 2019-12-03 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense);Rarity in general population databases (dbsnp, esp, 1000 genomes)
Medical Genetics, University of Parma RCV000497127 SCV000588727 pathogenic Neurofibromatosis, type 1 2017-02-02 no assertion criteria provided clinical testing

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