ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.6755A>G (p.Lys2252Arg) (rs1060500344)

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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 RCV000492274 SCV000581246 uncertain significance Hereditary cancer-predisposing syndrome 2014-07-09 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence,In silico models in agreement (benign)
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics RCV000735821 SCV000863540 uncertain significance Neurofibromatosis, type 1 2018-12-10 no assertion criteria provided clinical testing The observed variant NM_001042492.2: c.6818A>G(p.Lys2273Arg) in exon-45 of NF1 gene has not been reported in the 1000 Genomes and ExAC databases. The in-silico prediction of variant is damaging by LRT and MutationTaster2.

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