ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.5664C>T (p.Ile1888=)

gnomAD frequency: 0.00004  dbSNP: rs373685150
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000223410 SCV000272945 likely benign Hereditary cancer-predisposing syndrome 2015-05-01 criteria provided, single submitter clinical testing In silico models in agreement (benign);Synonymous alterations with insufficient evidence to classify as benign
Labcorp Genetics (formerly Invitae), Labcorp RCV000530222 SCV000628670 likely benign Neurofibromatosis, type 1 2024-12-19 criteria provided, single submitter clinical testing
GeneDx RCV000608631 SCV000727428 likely benign not specified 2018-03-02 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.
Sema4, Sema4 RCV000223410 SCV002527626 likely benign Hereditary cancer-predisposing syndrome 2022-02-10 criteria provided, single submitter curation
Genome-Nilou Lab RCV000530222 SCV002560840 likely benign Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494579 SCV002794826 likely benign Neurofibromatosis, familial spinal; Juvenile myelomonocytic leukemia; Neurofibromatosis, type 1; Neurofibromatosis-Noonan syndrome; Café-au-lait macules with pulmonary stenosis 2022-02-23 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000608631 SCV005887798 likely benign not specified 2025-01-13 criteria provided, single submitter clinical testing

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