ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.7521A>G (p.Gln2507=) (rs55865524)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000163326 SCV000213858 likely benign Hereditary cancer-predisposing syndrome 2014-06-13 criteria provided, single submitter clinical testing
Invitae RCV000679414 SCV000252691 benign not provided 2019-03-06 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000222469 SCV000270629 likely benign not specified 2015-10-13 criteria provided, single submitter clinical testing p.Gln2528Gln in exon 51 of NF1: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 0.13% (83/66330) o f European American chromosomes by the Exome Aggregation Consortium (ExAC, http: //; dbSNP rs55865524).
PreventionGenetics,PreventionGenetics RCV000222469 SCV000306296 likely benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000679414 SCV000527011 likely benign not provided 2018-02-08 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.
PreventionGenetics,PreventionGenetics RCV000679414 SCV000806318 likely benign not provided 2016-04-12 criteria provided, single submitter clinical testing
Medical Genetics,University of Parma RCV000196075 SCV000588839 uncertain significance Neurofibromatosis, type 1 2017-02-02 no assertion criteria provided clinical testing

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