ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.8388C>T (p.Ser2796=) (rs547090599)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000163790 SCV000214371 likely benign Hereditary cancer-predisposing syndrome 2014-10-06 criteria provided, single submitter clinical testing
GeneDx RCV000608086 SCV000729826 likely benign not specified 2017-07-31 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000205230 SCV000260214 likely benign Neurofibromatosis, type 1 2017-12-27 criteria provided, single submitter clinical testing
PreventionGenetics RCV000679418 SCV000806327 likely benign not provided 2017-11-10 criteria provided, single submitter clinical testing

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