ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.-22G>C (rs556823296)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000680348 SCV000604503 likely benign not provided 2017-05-04 criteria provided, single submitter clinical testing The NF1 c.-22G>C variant has been reported twice as having no known pathogenicity; and has been identified in one individual who also carried a pathogenic NF1 variant (see link below). It is listed in the ClinVar database (Variation ID: 257274) and is listed in the dbSNP variant database (rs556823296) with minor allele frequencies reported in the general population databases of 0.3 percent and 0.6 percent in Europeans (1000 Genomes, Genome Aggregation Database). Taken together, we consider this variant to be likely benign. References: Link to NF1 LOVD database for c.-22G>C: https://grenada.lumc.nl/LOVD2/mendelian_genes/variants.php?select_db=NF1&action=search_all&search_Variant%2FDNA=c.-22G%3EC
GeneDx RCV000680348 SCV000527304 likely benign not provided 2018-03-22 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.
Illumina Clinical Services Laboratory,Illumina RCV000370935 SCV000401665 likely benign Neurofibromatosis, type 1 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000260028 SCV000401666 likely benign Neurofibromatosis, familial spinal 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000317626 SCV000401667 likely benign Neurofibromatosis-Noonan syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000355798 SCV000401668 likely benign Café-au-lait macules with pulmonary stenosis 2016-06-14 criteria provided, single submitter clinical testing
PreventionGenetics RCV000243575 SCV000306235 likely benign not specified criteria provided, single submitter clinical testing

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