ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.4267A>C (p.Lys1423Gln) (rs137854550)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, Inc,Center for Human Genetics, Inc RCV000497192 SCV000782014 likely pathogenic Neurofibromatosis, type 1 2016-11-01 criteria provided, single submitter clinical testing
Medical Genomics Laboratory,Department of Genetics UAB RCV000497192 SCV000999185 pathogenic Neurofibromatosis, type 1 2019-06-05 criteria provided, single submitter clinical testing
Medical Genetics, University of Parma RCV000497192 SCV000588777 uncertain significance Neurofibromatosis, type 1 2017-02-02 no assertion criteria provided clinical testing

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