ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.5719G>T (p.Glu1907Ter) (rs786203896)

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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 RCV000167400 SCV000218255 pathogenic Hereditary cancer-predisposing syndrome 2014-12-30 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Fulgent Genetics,Fulgent Genetics RCV000762994 SCV000893439 pathogenic Neurofibromatosis, familial spinal; Juvenile myelomonocytic leukemia; Neurofibromatosis, type 1; Neurofibromatosis-Noonan syndrome; Café-au-lait macules with pulmonary stenosis 2018-10-31 criteria provided, single submitter clinical testing

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