ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.2294G>A (p.Arg765His) (rs199474777)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000197680 SCV000254487 likely benign Neurofibromatosis, type 1 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000221393 SCV000277121 uncertain significance Hereditary cancer-predisposing syndrome 2015-07-13 criteria provided, single submitter clinical testing In silico models in agreement (deleterious) and/or completely conserved position in appropriate species;Co-occurence with a mutation in another gene that clearly explains a proband's phenotype;Insufficient or conflicting evidence;Other data supporting benign classification
Center for Human Genetics, Inc,Center for Human Genetics, Inc RCV000197680 SCV000781945 uncertain significance Neurofibromatosis, type 1 2016-11-01 criteria provided, single submitter clinical testing
SIB Swiss Institute of Bioinformatics RCV000197680 SCV000803602 uncertain significance Neurofibromatosis, type 1 2018-05-31 criteria provided, single submitter curation This variant is interpreted as a Uncertain Significance - Insufficient Evidence, for Neurofibromatosis 1, in Autosomal Dominant manner. The following ACMG Tag(s) were applied: BS1 => Allele frequency is greater than expected for disorder.
GeneDx RCV000059165 SCV000808282 likely benign not provided 2018-06-05 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.
The Laboratory of Genetics and Metabolism, Hunan Children’s Hospital RCV001009580 SCV001169681 uncertain significance Neurofibromatosis, type 1; Tibial pseudoarthrosis 2018-11-10 criteria provided, single submitter research
UniProtKB/Swiss-Prot RCV000059165 SCV000090694 not provided not provided no assertion provided not provided

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