ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.6549G>A (p.Arg2183=)

gnomAD frequency: 0.00001  dbSNP: rs1028183407
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000466784 SCV000554943 likely benign Neurofibromatosis, type 1 2024-04-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV002318540 SCV000670511 likely benign Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2024-10-06 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.
GeneDx RCV000611864 SCV000718695 likely benign not specified 2017-04-24 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genome-Nilou Lab RCV000466784 SCV002561221 likely benign Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000611864 SCV005202395 likely benign not specified 2024-07-28 criteria provided, single submitter clinical testing

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