ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.4899A>G (p.Pro1633=)

gnomAD frequency: 0.00001  dbSNP: rs876658422
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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 RCV000216011 SCV000273610 likely benign Hereditary cancer-predisposing syndrome 2015-01-16 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 RCV000227380 SCV000284472 likely benign Neurofibromatosis, type 1 2024-10-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000227380 SCV002560783 likely benign Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing

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