ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.2769A>G (p.Leu923=)

dbSNP: rs1450651152
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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 RCV002315806 SCV000663262 likely benign Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2017-07-03 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 RCV000928994 SCV001074617 likely benign Neurofibromatosis, type 1 2024-12-18 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000575255 SCV002527476 likely benign Hereditary cancer-predisposing syndrome 2021-08-11 criteria provided, single submitter curation
Genome-Nilou Lab RCV000928994 SCV002560612 likely benign Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing

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