ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.1642-10A>G (rs1597706578)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Medical Genomics Laboratory,Department of Genetics UAB RCV001007741 SCV001167416 pathogenic Neurofibromatosis, type 1 2020-01-20 criteria provided, single submitter clinical testing
Division of Human Genetics,Medical University Innsbruck RCV001007741 SCV001250660 pathogenic Neurofibromatosis, type 1 2020-01-20 criteria provided, single submitter clinical testing
Invitae RCV001007741 SCV001408079 uncertain significance Neurofibromatosis, type 1 2019-09-23 criteria provided, single submitter clinical testing This sequence change falls in intron 14 of the NF1 gene. It does not directly change the encoded amino acid sequence of the NF1 protein. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual with clinical features of neurofibromatosis type 1 (PMID: 27074763). Experimental studies have shown that this variant affects mRNA splicing (PMID: 27074763). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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