ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.3468C>T (p.Asn1156=) (rs147955381)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000163604 SCV000214168 likely benign Hereditary cancer-predisposing syndrome 2014-08-09 criteria provided, single submitter clinical testing
GeneDx RCV000679383 SCV000528091 likely benign not provided 2018-08-02 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 RCV000200412 SCV000252682 benign Neurofibromatosis, type 1 2018-01-09 criteria provided, single submitter clinical testing
PreventionGenetics RCV000249511 SCV000306256 likely benign not specified criteria provided, single submitter clinical testing
PreventionGenetics RCV000679383 SCV000806272 likely benign not provided 2014-02-21 criteria provided, single submitter clinical testing

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