ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.7738+46G>A

gnomAD frequency: 0.00422  dbSNP: rs199641099
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000680958 SCV000808407 likely benign not provided 2018-06-15 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.
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV000253207 SCV002550908 likely benign not specified 2025-03-04 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000680958 SCV005212442 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV004547629 SCV000306297 benign NF1-related disorder 2019-05-02 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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