ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.7479A>G (p.Pro2493=)

gnomAD frequency: 0.00001  dbSNP: rs144957306
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000205791 SCV000260128 likely benign Neurofibromatosis, type 1 2024-12-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV000219959 SCV000272950 likely benign Hereditary cancer-predisposing syndrome 2014-11-25 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
GeneDx RCV000603656 SCV000724573 likely benign not specified 2017-11-08 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000603656 SCV002014991 likely benign not specified 2021-10-20 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000603656 SCV002065340 likely benign not specified 2021-06-07 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000219959 SCV002528107 likely benign Hereditary cancer-predisposing syndrome 2022-02-19 criteria provided, single submitter curation
Genome-Nilou Lab RCV000205791 SCV002561298 likely benign Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing

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