ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.3621A>G (p.Arg1207=)

gnomAD frequency: 0.00011  dbSNP: rs141390152
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000167396 SCV000218251 likely benign Hereditary cancer-predisposing syndrome 2014-12-15 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000458302 SCV000542013 likely benign Neurofibromatosis, type 1 2025-02-03 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000167396 SCV002527522 uncertain significance Hereditary cancer-predisposing syndrome 2022-02-02 criteria provided, single submitter curation

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