ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.4514+12C>T (rs17878332)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000679392 SCV000521671 likely benign not provided 2018-03-28 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.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000217494 SCV000269454 benign not specified 2014-11-20 criteria provided, single submitter clinical testing c.4577+12C>T in intron 34 of NF1:This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence. It has also been identified in 0.9% (41/440 6) of African American chromosomes by the NHLBI Exome sequencing project (http:/ /evs.gs.washington.edu/EVS/; dbSNP rs17878332).
PreventionGenetics RCV000217494 SCV000306269 likely benign not specified criteria provided, single submitter clinical testing
PreventionGenetics RCV000679392 SCV000806283 likely benign not provided 2016-06-27 criteria provided, single submitter clinical testing

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