ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.2661A>G (p.Ala887=)

dbSNP: rs1555614292
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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 RCV002316666 SCV000666813 likely benign Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2017-02-16 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 RCV001503156 SCV001708005 likely benign Neurofibromatosis, type 1 2023-11-19 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001503156 SCV002560607 likely benign Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003230547 SCV003928900 likely benign not specified 2023-04-27 criteria provided, single submitter clinical testing

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