ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.6312G>A (p.Leu2104=) (rs773467465)

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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 RCV000164074 SCV000214684 likely benign Hereditary cancer-predisposing syndrome 2014-10-09 criteria provided, single submitter clinical testing
GeneDx RCV000222814 SCV000729820 likely benign not specified 2018-02-22 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 RCV000206577 SCV000260654 likely benign Neurofibromatosis, type 1 2017-12-26 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000222814 SCV000270626 likely benign not specified 2015-02-23 criteria provided, single submitter clinical testing p.Leu2125Leu in exon 42 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. The variant has been identified in 5/66724 E uropean chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broad institute.org).
PreventionGenetics RCV000222814 SCV000306281 likely benign not specified criteria provided, single submitter clinical testing

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