ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.2617C>T (p.Arg873Cys) (rs199474739)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000226490 SCV000284417 benign Neurofibromatosis, type 1 2019-12-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV000560998 SCV000670324 uncertain significance Hereditary cancer-predisposing syndrome 2019-04-19 criteria provided, single submitter clinical testing In silico models in agreement (deleterious) and/or completely conserved position in appropriate species;Insufficient evidence
Mendelics RCV000226490 SCV001140352 uncertain significance Neurofibromatosis, type 1 2019-05-28 criteria provided, single submitter clinical testing
UniProtKB/Swiss-Prot RCV000059177 SCV000090706 not provided not provided no assertion provided not provided

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