ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.6480A>G (p.Lys2160=)

gnomAD frequency: 0.00001  dbSNP: rs1060503918
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000473748 SCV000554967 likely benign Neurofibromatosis, type 1 2024-08-28 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001821312 SCV002070808 uncertain significance not specified 2019-05-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002365680 SCV002658567 likely benign Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2020-05-14 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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