ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.6111T>C (p.Ala2037=)

gnomAD frequency: 0.00001  dbSNP: rs876658898
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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 RCV000215320 SCV000274732 likely benign Hereditary cancer-predisposing syndrome 2015-03-26 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 RCV001493492 SCV001698121 likely benign Neurofibromatosis, type 1 2024-01-13 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001493492 SCV002560869 likely benign Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing

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