ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.7496G>T (p.Gly2499Val)

gnomAD frequency: 0.00001  dbSNP: rs375176282
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002416304 SCV001188812 likely benign Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2023-04-24 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001325983 SCV001516995 benign Neurofibromatosis, type 1 2025-01-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001325983 SCV002561092 uncertain significance Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing
Baylor Genetics RCV003461418 SCV004198411 uncertain significance Juvenile myelomonocytic leukemia 2023-07-16 criteria provided, single submitter clinical testing

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