ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.4277A>C (p.Gln1426Pro) (rs786204157)

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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 RCV000492775 SCV000581308 likely pathogenic Hereditary cancer-predisposing syndrome 2016-03-29 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (deleterious) and/or completely conserved position in appropriate species,Other strong data supporting pathogenic classification,Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation
Center for Human Genetics, Inc RCV000660055 SCV000782019 pathogenic Neurofibromatosis, type 1 2016-11-01 criteria provided, single submitter clinical testing

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