ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.132C>A (p.Ile44=)

gnomAD frequency: 0.00001  dbSNP: rs765778199
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001445849 SCV001648888 likely benign Neurofibromatosis, type 1 2024-11-06 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001820139 SCV002068775 likely benign not specified 2017-08-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001445849 SCV002561112 likely benign Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV004557656 SCV005047393 likely benign Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2023-09-28 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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