ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.3871-15C>T

gnomAD frequency: 0.00014  dbSNP: rs200104394
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000679387 SCV000806278 likely benign not provided 2017-10-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002066990 SCV002421522 likely benign Neurofibromatosis, type 1 2025-01-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002066990 SCV002560697 likely benign Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002499196 SCV002805200 likely benign Neurofibromatosis, familial spinal; Juvenile myelomonocytic leukemia; Neurofibromatosis, type 1; Neurofibromatosis-Noonan syndrome; Café-au-lait macules with pulmonary stenosis 2021-08-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV004559342 SCV005048388 likely benign Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2015-07-24 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.
Breakthrough Genomics, Breakthrough Genomics RCV000679387 SCV005212427 likely benign not provided criteria provided, single submitter not provided

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